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# Menkes disease

A genetic disease of boys in which the gut cannot pass copper into the blood: kinky hair, seizures and neurological decline.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [White matter](https://durgical.com/en/anatomy/white-matter-of-telencephalon/)
- [Cerebellum](https://durgical.com/en/anatomy/anterior-quadrangular-lobule/)
- [Skin](https://durgical.com/en/anatomy/skin/)
- [Internal carotid artery](https://durgical.com/en/anatomy/internal-carotid-artery/)
- [Duodenum](https://durgical.com/en/anatomy/duodenum/)

## In biochemistry

- [Catecholamine synthesis and breakdown: Step 3 · Dopamine β-hydroxylase (DBH)](https://durgical.com/en/biochemistry/pathways/catecholamine-synthesis-and-breakdown/#paso-3)
- [Collagen synthesis](https://durgical.com/en/biochemistry/topics/collagen-synthesis/)
- [Collagen](https://durgical.com/en/biochemistry/enzymes/collagen/)
- [Elastin](https://durgical.com/en/biochemistry/enzymes/elastin/)
- [Copper](https://durgical.com/en/biochemistry/topics/copper/)

## What it is

An X-linked recessive disorder caused by ATP7A mutations that blocks copper export from enterocytes and its delivery to the enzymes that need it. Milder forms include occipital horn syndrome.

## Who gets it

Rare: about 1 in 100,000 to 250,000 live births. It affects almost only boys; mothers are usually carriers.

## Causes

- Mutations of the ATP7A gene (X chromosome)

## Risk factors

- Male sex
- Carrier mother or family history of affected males

## Pathophysiology

ATP7A pumps copper out of the enterocyte into blood and into the Golgi apparatus to load it onto enzymes. Without it copper is trapped in the gut and [kidney](https://durgical.com/en/anatomy/kidney/) and is lacking in the brain and the rest of the body. Lysyl oxidase fails (weak collagen and elastin: tortuous arteries, lax [skin](https://durgical.com/en/anatomy/skin/), bladder diverticula), as do cytochrome c oxidase (neurodegeneration), dopamine β-hydroxylase (dysautonomia), tyrosinase (hypopigmentation) and the enzymes forming keratin disulphide bonds (brittle hair).

## Classification

- Classic severe (onset in the first months)
- Mild or atypical
- Occipital horn syndrome (connective tissue predominates)

## Symptoms and signs

- Sparse, kinky, brittle, colourless hair (pili torti)
- Hypotonia, developmental delay and regression
- Seizures from 2 or 3 months
- Hypothermia, poor weight gain
- Lax skin, chubby cheeks

## Red flags

- Hard-to-control seizures
- Subdural haemorrhage (fragile arteries)
- Hypothermia or apnoea

## Diagnosis

**Clinical**
A baby boy with abnormal hair, hypotonia and seizures; microscopy of the hair (pili torti).

**Tests**
Low serum copper and ceruloplasmin; plasma catechol ratio (high DOPA/DHPG) as an early test; ATP7A genetic testing.

**Imaging**
Brain MRI and MR angiography: atrophy, [white matter](https://durgical.com/en/anatomy/white-matter-of-telencephalon/) changes, subdural haematomas and tortuous intracranial arteries; X-rays with wormian bones and metaphyseal spurs.

## Treatment

**Medical**
Subcutaneous copper histidinate started in the first weeks of life, which can improve outcome in some mutations

**Medical**
Management of seizures, nutrition and infections

**Rehabilitation**
Supportive therapies and palliative care as the disease evolves

**Follow-up**
Genetic counselling and carrier testing in the maternal family

## Complications

- Progressive neurodegeneration
- Subdural haemorrhage and aneurysms
- Respiratory infections
- Bladder diverticula, bladder rupture

## Prognosis

In the classic form most children die before age 3; very early copper treatment improves the course in some patients.

## Prevention

- Genetic counselling and prenatal diagnosis in families with a history

## Test yourself

Think of the answer, then tap the question to see it.

## Which transporter fails in Menkes disease?

ATP7A, which exports copper from enterocytes into blood and loads it onto enzymes in the Golgi apparatus.

## Why do children with Menkes have tortuous arteries?

Lysyl oxidase fails; this copper enzyme forms the cross-links of collagen and elastin.

## Which hair finding is typical?

Pili torti: hairs twisted on their axis, brittle and poorly pigmented.

## How does it differ from Wilson disease?

In Menkes the body lacks copper (ATP7A failure, X-linked); in Wilson it builds up in the liver and brain (ATP7B failure, autosomal recessive).

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## Related conditions

- [Wilson disease](https://durgical.com/en/conditions/wilson-disease/)
- [Subdural haematoma](https://durgical.com/en/conditions/subdural-haematoma/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Menkes syndrome: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/menkes-syndrome/) (MedlinePlus, US National Library of Medicine, 2026); [ATP7A gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/atp7a/) (MedlinePlus, US National Library of Medicine, 2026); [Copper in diet: MedlinePlus Medical Encyclopedia](https://medlineplus.gov/ency/article/002419.htm) (MedlinePlus, US National Library of Medicine, 2026); [Ceruloplasmin Test: MedlinePlus Medical Test](https://medlineplus.gov/lab-tests/ceruloplasmin-test/) (MedlinePlus, US National Library of Medicine, 2026); Textbook of Biochemistry for Medical Students, 6th ed. (Jaypee Brothers Medical Publishers (Vasudevan DM, Sreekumari S, Vaidyanathan K), 2011).

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Source: https://durgical.com/en/conditions/menkes-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/menkes-disease/