Menkes Disease: A Detailed Guide

Last Updated on August 28, 2026 by Nurseslab.in Editorial Team

Overview

Menkes disease is a rare inherited disorder of copper transport caused by disease-causing variants in the ATP7A gene. Copper is present in the diet, but the body cannot move it normally from intestinal cells into the circulation or distribute it correctly within cells. Copper accumulates in some tissues, particularly intestinal lining and kidneys, while the brain, liver, blood, and other tissues remain functionally deficient. The result is failure of multiple copper-dependent enzymes required for nervous-system development, connective-tissue strength, blood-vessel integrity, pigmentation, energy production, and neurotransmitter synthesis.

Classic Menkes disease primarily affects infants with one X chromosome and usually appears after a short period of apparently normal health. Feeding difficulty, poor growth, low muscle tone, seizures, developmental slowing or regression, temperature instability, and sparse, fragile, lightly pigmented hair become evident during early infancy. Without effective early treatment, progressive neurodegeneration and premature death are common. A milder allelic condition, occipital horn syndrome, and an adult-onset ATP7A-related distal motor neuropathy form part of the same biological spectrum.

Normal Copper Handling and the Role of ATP7A

Copper is an essential trace element. After dietary copper enters intestinal cells, ATP7A helps transport it across the cell and into the bloodstream. Within many other cells, ATP7A delivers copper to enzymes in the secretory pathway and moves excess copper toward the cell surface for export. The protein is especially important during brain development because the nervous system needs tightly regulated copper delivery.

When ATP7A function is absent or severely reduced, simple dietary supplementation cannot correct the transport defect. Oral copper is poorly effective because it remains trapped in intestinal cells. Parenteral copper histidinate bypasses intestinal absorption, but response still depends on treatment timing and residual ability to move copper into the brain and intracellular compartments.

Copper-Dependent Enzymes and Disease Manifestations

• Cytochrome c oxidase: Impaired mitochondrial energy production contributes to neurological dysfunction, weakness, and poor growth.
• Dopamine beta-hydroxylase: Altered catecholamine synthesis affects autonomic regulation and provides useful biochemical markers.
• Lysyl oxidase: Defective collagen and elastin cross-linking causes fragile vessels, loose skin, hernias, abnormal bones, and bladder diverticula.
• Tyrosinase: Reduced melanin production contributes to pale skin and hypopigmented hair.
• Cu/Zn superoxide dismutase: Reduced antioxidant defence may increase cellular injury.
• Peptidylglycine alpha-amidating monooxygenase: Impaired activation of neuropeptides may contribute to neurological and endocrine dysfunction.

Genetics and Inheritance

The ATP7A gene is located on the X chromosome. Menkes disease is usually inherited in an X-linked pattern. A person with one X chromosome who inherits a pathogenic variant generally develops disease because there is no second working copy. A heterozygous person with two X chromosomes is often an unaffected carrier, although skewed X-chromosome inactivation, X-chromosome structural abnormalities, or other rare circumstances can produce symptoms.

• A carrier has a 50% chance in each pregnancy of transmitting the altered X chromosome.
• A child with one X chromosome who inherits the variant is expected to be affected; a child with two X chromosomes who inherits it is usually a carrier.
• An affected father does not transmit an X-linked variant to sons but transmits his X chromosome to all daughters.
• Approximately one-third of affected individuals have a newly occurring variant, so a negative family history does not exclude disease.
• Carrier testing may be appropriate for maternal relatives after the family variant is identified.

The ATP7A-Related Clinical Spectrum

• Classic Menkes disease: Severe early-infantile neurodegeneration, seizures, growth failure, characteristic hair, and connective-tissue abnormalities.
• Intermediate or mild Menkes disease: Later onset or slower progression, often reflecting some residual ATP7A function.
• Occipital horn syndrome: Predominantly connective-tissue disease with wedge-shaped occipital calcifications, loose skin and joints, hernias, vascular tortuosity, and bladder diverticula; intellectual function is often normal or mildly affected.
• ATP7A-related distal motor neuropathy: A later-onset peripheral motor-neuron disorder causing distal weakness and muscle wasting, generally without low serum copper or the classic hair and connective-tissue phenotype.

Clinical Course and Early Clues

Pregnancy and delivery are often unremarkable, and many infants initially appear healthy. Prematurity, cephalohaematoma, unexplained fractures, hypothermia, hypoglycaemia, prolonged jaundice, or feeding difficulty may occur but are not specific. A six- to twelve-week symptom-free interval is typical in classic disease. The infant then develops poor feeding, faltering growth, hypotonia, irritability, seizures, and loss or failure of developmental skills.

Hair changes may provide a critical clue. Scalp hair becomes short, sparse, coarse, dull, fragile, and lightly pigmented, particularly in areas exposed to friction. Under microscopy it commonly shows pili torti—flattened shafts twisted at intervals—along with variable diameter and breakage. Hair appearance is supportive but not sufficient for diagnosis, and cultural descriptions of normal hair texture should never be confused with the pathological shaft abnormalities of Menkes disease.

Signs and Symptoms

• Neurological: Hypotonia, developmental delay or regression, seizures, abnormal movements, poor visual attention, irritability, later spasticity, weakness, and profound intellectual disability in severe disease.
• Feeding and growth: Weak suck, swallowing difficulty, vomiting, diarrhoea, aspiration, failure to thrive, and malnutrition.
• Hair and skin: Sparse, brittle, twisted, lightly pigmented hair; dry or lax skin; unusual scarring; and reduced pigmentation.
• Facial appearance: Full or pudgy cheeks, sagging facial skin, micrognathia, and frontal or occipital prominence may develop.
• Temperature and metabolism: Hypothermia, temperature instability, hypoglycaemia, and occasionally prolonged neonatal jaundice.
• Skeletal: Osteopenia or osteoporosis, fractures, wormian bones, metaphyseal abnormalities, pectus deformity, and widened sutures.
• Connective tissue: Umbilical or inguinal hernia, joint laxity, abnormal skin elasticity, and arterial tortuosity.
• Vascular: Fragile, elongated, and tortuous arteries can cause thrombosis, subdural bleeding, intracranial haemorrhage, or stroke-like injury.
• Urinary: Bladder diverticula, recurrent infection, reflux, urinary retention, or rupture in severe connective-tissue disease.
• Respiratory: Aspiration, recurrent pneumonia, weak cough, airway problems, and respiratory failure in advanced disease.

Diagnostic Evaluation

1. Urgent clinical history: Review feeding, growth, seizures, developmental skills, temperature instability, fractures, bleeding, hair change, family history of early male deaths, and known ATP7A variants.
2. Physical examination: Assess growth, head circumference, hair and skin, tone, reflexes, vision, hearing, feeding, joints, hernias, chest shape, skeletal tenderness, and bladder or bowel features.
3. Serum copper: Usually low after the neonatal period, but a low value is not specific and early neonatal levels are naturally low in all infants.
4. Serum ceruloplasmin: Commonly low, but interpretation requires age-specific ranges and clinical context.
5. Molecular genetic testing: Sequence analysis of ATP7A is usually performed first, followed by deletion/duplication analysis when sequencing is negative. Rapid testing is essential in at-risk newborns.
6. Biochemical catecholamine profile: Abnormal ratios of dopamine metabolites to norepinephrine metabolites can identify reduced dopamine beta-hydroxylase activity and support very early diagnosis.
7. Hair microscopy: Demonstrates pili torti, trichorrhexis nodosa, monilethrix-like changes, or shaft fractures; findings support but do not confirm the diagnosis.
8. Brain MRI: May show cerebral and cerebellar atrophy, delayed myelination, subdural collections, white-matter injury, vascular complications, or characteristic tortuous intracranial arteries.
9. Vascular imaging: MR angiography, CT angiography, or ultrasound may assess arterial tortuosity, stenosis, aneurysm, haemorrhage, or thrombosis.
10. Electroencephalography: Characterises seizures, detects subclinical epileptic activity, and guides antiseizure treatment.
11. Skeletal survey or targeted radiographs: Evaluates fractures, osteoporosis, metaphyseal changes, wormian bones, and occipital horns in a milder phenotype.
12. Renal and bladder assessment: Urinalysis, renal function, ultrasound, and specialist urological studies may identify diverticula, infection, reflux, or obstruction.
13. Feeding and swallowing evaluation: Clinical and instrumental assessment identifies aspiration and guides safe nutrition.
14. Ophthalmology, audiology, and developmental assessment: Establish baseline function and treatment needs.

Why Diagnosis Is Difficult

The earliest signs—poor feeding, low tone, hypothermia, and slow weight gain—are common in many neonatal disorders. Copper and ceruloplasmin are naturally low in healthy newborns, limiting their value during the most important treatment window. Hair changes may not yet be obvious, and seizures can lead evaluation toward more common neurological diseases. For an infant with a known family history, rapid molecular or targeted biochemical testing is therefore more reliable than waiting for the classic phenotype.

Differential Diagnosis

• Other causes of neonatal or infantile seizures, including hypoxic-ischaemic injury, infection, metabolic disease, and epilepsy syndromes.
• Congenital disorders of glycosylation and mitochondrial disorders.
• Biotinidase deficiency, pyridoxine-dependent epilepsy, or other treatable metabolic epilepsies.
• Nutritional copper deficiency caused by severe malnutrition, malabsorption, or excessive zinc exposure.
• Wilson disease, which causes copper accumulation by a different transporter and generally presents later.
• Trichothiodystrophy, Netherton syndrome, monilethrix, and other hair-shaft disorders.
• Ehlers–Danlos syndromes, cutis laxa disorders, and other connective-tissue diseases.
• Non-accidental injury when fractures or subdural bleeding are present; Menkes disease and safeguarding concerns can coexist and require careful multidisciplinary assessment.

Treatment Goals

• Deliver bioavailable copper as early as possible.
• Prevent or reduce neurological injury and prolong survival.
• Control seizures and protect development.
• Maintain safe nutrition, hydration, respiratory function, and comfort.
• Detect vascular, skeletal, urinary, and connective-tissue complications.
• Support caregivers with training, equipment, respite, genetics counselling, and coordinated goals of care.

Disease-Specific Copper Treatment

Parenteral copper histidinate is the central disease-specific therapy. In the United States, the Food and Drug Administration approved copper histidinate injection in January 2026 for paediatric Menkes disease. Availability and regulatory status vary by country. Treatment should begin immediately under expert supervision when a newborn has a confirmed familial variant or compelling evidence; diagnostic confirmation and treatment planning often proceed in parallel.

• Route: Copper histidinate is given by subcutaneous injection, bypassing defective intestinal absorption.
• Timing: Outcomes are best when treatment begins in the neonatal period, before seizures or developmental regression.
• Genotype effect: Variants retaining some ATP7A activity may respond better because copper still needs intracellular transport after injection.
• Expectations: Early treatment can improve survival and neurodevelopment but may not prevent all complications. Starting after neurological injury is established is generally less effective.
• Monitoring: Serum copper and ceruloplasmin, blood count, liver and kidney function, clinical development, seizure burden, and signs of copper excess are followed.
• Adverse effects: Injection-site reactions, vomiting, fever, anaemia, infection, respiratory problems, and copper accumulation require surveillance.
• Avoid unsupervised supplements: Oral copper products do not correct the transport defect reliably and can cause toxicity.

Supportive and Multidisciplinary Treatment

• Seizure management: Use electroencephalography-guided antiseizure medicines; rescue plans are essential for prolonged or clustered seizures.
• Nutrition: High-calorie feeding plans, thickened feeds when appropriate, nasogastric support, or gastrostomy may be needed.
• Aspiration prevention: Swallow assessment, positioning, secretion management, and respiratory physiotherapy reduce pneumonia risk.
• Spasticity and movement care: Physiotherapy, stretching, seating, splints, medicines, and tone-management services preserve comfort and function.
• Bone health: Handle gently, assess fractures promptly, optimise vitamin D and nutrition, and involve orthopaedics or endocrinology where needed.
• Bladder care: Treat infection, monitor renal function, manage retention or reflux, and consider surgery for significant diverticula.
• Hernias and connective tissue: Surgical repair is considered when symptomatic, obstructed, or at risk of complications; tissue fragility affects planning.
• Vision, hearing, and communication: Use early therapy, sensory support, adaptive communication, and developmental services.
• Respiratory support: Vaccination, airway-clearance plans, oxygen, non-invasive ventilation, or other support may be required.
• Palliative care: Introduce alongside disease-directed treatment to control symptoms, coordinate priorities, and support the family; it is not limited to end-of-life care.

Monitoring During Treatment

• Growth, head circumference, calorie intake, hydration, and developmental progress.
• Seizure frequency, duration, rescue use, and electroencephalographic changes.
• Serum copper, ceruloplasmin, blood count, liver enzymes, kidney function, and urinalysis.
• Injection sites and adherence to storage, preparation, and administration instructions.
• Swallow safety, aspiration, respiratory infections, and sleep-related breathing.
• Blood pressure, vascular symptoms, bruising, and neurological changes suggesting haemorrhage or stroke.
• Bone pain, fractures, joint range, posture, and mobility.
• Urinary infections, retention, haematuria, renal ultrasound, and bladder imaging where indicated.
• Family goals, caregiver burden, home nursing needs, equipment, and emergency plans.

Complications

• Drug-resistant epilepsy and status epilepticus.
• Progressive developmental impairment, spasticity, contractures, scoliosis, and loss of mobility.
• Aspiration pneumonia, recurrent infection, and respiratory failure.
• Subdural collections, intracranial haemorrhage, arterial thrombosis, aneurysm, or stroke.
• Osteoporosis, metaphyseal abnormalities, and recurrent fractures.
• Severe growth failure, dehydration, and malnutrition.
• Bladder diverticula, urinary infection, reflux, obstruction, or kidney damage.
• Hernias, loose skin and joints, and poor wound healing.
• Copper-treatment toxicity or complications of long-term injections.
• Premature death in severe classic disease.

Prognosis

Prognosis is strongly influenced by phenotype, genotype, and treatment timing. Untreated classic Menkes disease historically causes death in early childhood, often by about three years, commonly from neurological or respiratory complications. Mild ATP7A variants can produce longer survival and less severe disability. Occipital horn syndrome usually has a far better neurological outlook but still causes significant connective-tissue, vascular, skeletal, and urinary problems.

Very early copper histidinate can substantially improve survival and, in responsive genotypes, neurodevelopmental outcome. The 2026 United States approval was based on non-randomised open-label studies compared with external untreated controls; children treated within four weeks of birth had markedly lower mortality, and some survived beyond twelve years. These results are important but do not mean that every treated child will have normal development. Individual prediction remains difficult.

Early Diagnosis in an At-Risk Newborn

• Document the exact familial ATP7A variant before or during pregnancy whenever possible.
• Arrange prenatal diagnosis or immediate targeted newborn testing through genetics.
• Notify metabolic and neonatal teams before delivery so a treatment pathway is ready.
• Collect molecular and specialist biochemical samples without delaying indicated copper therapy.
• Establish baseline neurological, feeding, laboratory, and imaging assessments.
• Teach caregivers subcutaneous administration and toxicity warning signs before discharge.
• Test appropriate relatives and offer reproductive counselling.

Newborn Screening and Emerging Approaches

Routine population newborn screening is not yet widely available. Research approaches include measuring catecholamine metabolites in dried blood spots and rapid genomic screening. The challenge is to identify affected newborns before symptoms while minimising false-positive results and ensuring immediate access to confirmatory testing and treatment. The need for screening has become more urgent as evidence for very early copper treatment has strengthened.

Genetic Counselling and Reproductive Options

• Carrier testing: Targeted testing is most informative after identifying the family variant.
• Prenatal diagnosis: Chorionic-villus sampling or amniocentesis can test a pregnancy for the known variant.
• Preimplantation genetic testing: May be available with in-vitro fertilisation for families wishing to avoid transmission.
• Donor gametes or adoption: Additional reproductive options can be discussed without pressure.
• Recurrence after a new variant: Risk is usually lower if the mother tests negative, but germline mosaicism means it is not zero.
• Female relatives: Potential carriers benefit from counselling before pregnancy because early newborn treatment planning is critical.

When to Seek Urgent Medical Care

• A first seizure, a seizure lasting several minutes, repeated seizures without recovery, or a prescribed rescue medicine that does not work.
• Sudden reduced alertness, new weakness, unequal pupils, severe vomiting, a bulging fontanelle, or an abrupt change in neurological function.
• Breathing difficulty, blue colour, choking, suspected aspiration, pauses in breathing, or inability to clear secretions.
• Fever, markedly low temperature, poor perfusion, unusual sleepiness, or suspected infection.
• Persistent vomiting, reduced urine, inability to feed, or signs of dehydration.
• Unexplained bruising, head swelling, blood in urine or stool, severe pain, or possible fracture.
• Abdominal swelling, painful urination, inability to pass urine, or symptoms of bladder infection.
• Signs of copper toxicity or a serious injection reaction as defined by the treatment team.

Questions to Ask the Healthcare Team

• Has an ATP7A pathogenic variant been confirmed, and what phenotype is expected?
• Should copper histidinate start before all test results are final?
• What is the exact injection schedule, and how will we monitor benefit and toxicity?
• Does this variant retain residual ATP7A function that may influence response?
• Which seizure, feeding, breathing, vascular, bone, and bladder complications are currently present?
• What equipment and emergency medicines are needed at home?
• Which relatives should receive carrier or diagnostic testing?
• What prenatal or preimplantation testing options are available for future pregnancies?
• How can palliative care, home nursing, rehabilitation, and family support be integrated now?
• Are clinical trials or specialist natural-history programmes appropriate?

Key Points

Menkes disease is an X-linked disorder caused by pathogenic variants in ATP7A, producing defective copper absorption and intracellular distribution. The deficiency of copper-dependent enzymes causes early neurodegeneration, seizures, growth failure, characteristic fragile hair, vascular fragility, bone disease, hernias, and urinary complications. Diagnosis combines urgent molecular testing with serum copper and ceruloplasmin, specialised catecholamine studies, hair microscopy, imaging, electroencephalography, and organ-specific assessment. Parenteral copper histidinate is disease-specific treatment and is most effective when started in the first weeks of life. Supportive neurological, nutritional, respiratory, orthopaedic, urological, rehabilitative, genetic, and palliative care remains essential throughout the disease course.

Sources for Further Reading

• GeneReviews: ATP7A-Related Copper Transport Disorders.
• MedlinePlus Genetics: Menkes syndrome.
• National Institute of Neurological Disorders and Stroke: Menkes Disease.
• United States Food and Drug Administration: approval information for copper histidinate.
• Orphanet: Menkes disease.

Nursing Care of a Patient with Menkes Disease

Overview

Menkes disease is a rare, usually X-linked recessive copper-transport disorder caused by pathogenic variants in the ATP7A gene. Impaired copper transport affects copper-dependent enzymes and can lead to progressive neurodegeneration, seizures, hypotonia, feeding difficulty, failure to thrive, abnormal sparse kinky hair, connective-tissue problems, respiratory infections, and developmental delay. Early diagnosis and specialist treatment are important, and copper histidinate therapy may be prescribed in selected patients, especially when started very early. Nursing care focuses on airway protection, seizure management, nutrition and feeding safety, infection prevention, developmental support, caregiver education, genetic counselling, and coordinated multidisciplinary care.

Nursing Assessment

• Assess neurological status, including level of alertness, tone, head control, developmental milestones, irritability, seizures, abnormal eye or mouth movements, and response to anti-seizure medicines.
• Assess feeding ability, swallowing safety, weight gain, hydration, vomiting, reflux, aspiration signs, and need for feeding therapy or gastrostomy support.
• Assess respiratory status, including cough, work of breathing, oxygen saturation, recurrent pneumonia, aspiration risk, secretion clearance, and need for respiratory support.
• Inspect hair, skin, and connective-tissue findings such as sparse kinky or steely hair, loose skin, bruising, poor wound healing, fractures, joint laxity, and temperature instability.
• Review laboratory and diagnostic results, including serum copper, ceruloplasmin, ATP7A genetic testing, neuroimaging, EEG, bone imaging, swallow study, and infection workup when ordered.
• Assess renal and urinary status for recurrent urinary tract infection, bladder diverticula, urine output, fever, irritability, and antibiotic prophylaxis or urology follow-up needs.
• Assess family coping, caregiver skills, understanding of prognosis, home equipment needs, access to specialist care, genetic counselling needs, and palliative or home-nursing support.

Priority Nursing Diagnoses

• Risk for ineffective airway clearance related to hypotonia, weak cough, aspiration risk, recurrent pneumonia, or decreased neurological function.
• Imbalanced nutrition: less than body requirements related to feeding difficulty, poor sucking, dysphagia, reflux, increased energy needs, or failure to thrive.
• Risk for aspiration related to swallowing dysfunction, seizures, reflux, vomiting, or reduced alertness.
• Risk for injury related to seizures, hypotonia, fractures, developmental delay, or impaired mobility.
• Delayed growth and development related to progressive neurological impairment and copper-transport disorder.
• Risk for infection related to recurrent respiratory infections, urinary tract abnormalities, poor nutrition, or invasive devices.
• Caregiver role strain related to complex chronic illness, frequent appointments, home care needs, uncertainty, and emotional burden.

Nursing Interventions

• Maintain airway safety by positioning the infant appropriately, keeping suction available when indicated, monitoring oxygen saturation and respiratory effort, and reporting respiratory distress promptly.
• Use aspiration precautions during feeding; collaborate with speech-language therapy for swallowing evaluation and follow recommendations for positioning, pacing, texture, or tube feeding.
• Monitor weight, intake and output, hydration, bowel pattern, growth curves, and signs of malnutrition; coordinate with dietetics for high-calorie nutrition or gastrostomy feeding when needed.
• Implement seizure precautions, administer prescribed anti-seizure medicines, document seizure type, duration, triggers, recovery, and response to therapy, and teach caregivers emergency seizure actions.
• Administer copper histidinate or copper replacement therapy only as prescribed, support correct subcutaneous administration if used at home, and monitor for injection-site reactions, infection, anaemia, respiratory complications, and laboratory trends.
• Promote developmental care through early intervention, physiotherapy, occupational therapy, speech therapy, positioning, sensory stimulation, range-of-motion activities, and prevention of contractures.
• Prevent infection by encouraging hand hygiene, vaccination review, respiratory infection prevention, careful device care, and prompt reporting of fever, poor feeding, respiratory symptoms, or urinary symptoms.
• Protect skin and bones by gentle handling, pressure-injury prevention, safe positioning, fracture precautions, and monitoring for bruising, swelling, pain, or decreased limb movement.
• Coordinate multidisciplinary care with genetics, neurology, metabolic specialists, nutrition, pulmonology, gastroenterology, urology, rehabilitation, palliative care, social work, and home nursing.
• Provide family-centred emotional support, discuss goals of care according to family readiness, and help caregivers access respite, equipment, financial support, and community resources.

Patient and Family Education

• Explain that Menkes disease affects copper transport, which can impair brain development, growth, connective tissue, hair, breathing, feeding, and infection resistance.
• Teach caregivers to seek urgent care for seizures, breathing difficulty, blue colour, repeated choking, fever, poor feeding, dehydration, reduced alertness, persistent vomiting, or signs of urinary infection.
• Review safe feeding practices, aspiration signs, gastrostomy care if present, medication schedules, seizure rescue plan, and when to call emergency services.
• Teach correct preparation, storage, administration, and disposal procedures for prescribed copper histidinate injections if used at home, following the specialist team’s instructions.
• Encourage adherence to specialist appointments, laboratory monitoring, developmental therapies, nutrition follow-up, respiratory care, and vaccination recommendations.
• Discuss genetic counselling because Menkes disease is usually X-linked and families may need carrier testing, recurrence-risk counselling, or prenatal options.
• Encourage caregivers to use reliable support resources, respite services, home nursing, palliative care, and psychosocial support to reduce caregiver burden.

Expected Outcomes

• The infant maintains the best possible airway clearance, oxygenation, hydration, and nutritional status.
• Seizures are recognized early, treated according to the plan, and caregiver response is appropriate.
• The patient receives timely copper therapy, feeding support, developmental therapy, infection prevention, and specialist follow-up when indicated.
• The patient remains free from preventable aspiration, severe dehydration, pressure injury, fracture, uncontrolled infection, and medication-related harm.
• The family demonstrates safe feeding, medication administration, seizure response, respiratory monitoring, and use of home equipment when applicable.
• The family receives genetic counselling, psychosocial support, palliative support when appropriate, and coordinated care that aligns with goals and quality of life.

Evaluation

Evaluate nursing care by reviewing respiratory stability, feeding safety, weight gain, hydration, seizure frequency, developmental support, infection episodes, medication tolerance, laboratory monitoring, skin and bone integrity, caregiver confidence, follow-up attendance, and family coping. Revise the care plan if seizures worsen, aspiration occurs, growth falters, respiratory infections recur, copper therapy side effects appear, home-care needs increase, or the family requires additional specialist, palliative, or psychosocial support.

REFERENCES

1. Fujisawa C, Kodama H, Sato Y, Mimaki M, Yagi M, Awano H, Matsuo M, Shintaku H, Yoshida S, Takayanagi M, Kubota M, Takahashi A, Akasaka Y. Early clinical signs and treatment of Menkes disease. Mol Genet Metab Rep. 2022 Feb 17;31:100849. doi: 10.1016/j.ymgmr.2022.100849. PMID: 35242581; PMCID: PMC8861833.
2. Akinseye ON, Yazdani R, Tornow KA, Reeder KN, Clarke RL, Pfeifer CM. Imaging findings of Menkes disease, a radiographic mimic of abusive trauma (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556522/pdf/main.pdf). Radiol Case Rep. 2019 Aug;14(8):993-996.
3. GARD (Genetic and Rare Diseases Information Center). Occipital horn syndrome (https://rarediseases.info.nih.gov/diseases/4017/occipital-horn-syndrome).
4. Kaler SG, Ferreira CR, Yam LS. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD) (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283148/pdf/main.pdf). Mol Genet Metab Rep. 2020 Sep;24:100602.
5. Lee T, Yagi M, Kusunoki N et al. Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease (https://www.brainanddevelopment.com/article/S0387-7604(14%2900036-9/fulltext). Brain Dev. 2015 Jan;37(1):114-9.
6. Ojha R, Prasad AN. Menkes disease: what a multidisciplinary approach can do (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993560/pdf/jmdh-9-371.pdf). J Multidiscip Healthc. 2016;9:371-385. Accessed 4/18/2022.
7. NORD (National Organization for Rare Disorders). Menkes Disease (https://rarediseases.org/rare-diseases/menkes-disease/).
8. Ramani PK, Sankaran BP. Menkes Kinky Hair Disease (https://www.ncbi.nlm.nih.gov/books/NBK560917/). [Updated 2020 Oct 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-.
9. The Menkes Foundation. Understanding Menkes https://themenkesfoundation.org/research.

Stories are the threads that bind us; through them, we understand each other, grow, and heal.

JOHN NOORD

Connect with “Nurses Lab Editorial Team”

I hope you found this information helpful. Do you have any questions or comments? Kindly write in comments section. Subscribe the Blog with your email so you can stay updated on upcoming events and the latest articles.