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Menkes' disease: causes, symptoms, diagnosis, treatment

Alexey Kryvenko, medical expert
Last reviewed: 04.07.2025

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The group of diseases associated with deficiency of copper transport channels includes classic Menkes disease (kinky or steel hair disease), a mild variant of Menkes disease, occipital horn syndrome (X-linked lax skin, Ehlers-Danlos syndrome, type IX).

ICD-10 code

E73.0. Congenital lactase deficiency.

Symptoms of Menkes disease

Copper is necessary for the functioning of many enzyme systems. In the fetus, copper deficiency causes malformations and stigmas of dysembryogenesis. Due to the disruption of the properties of elastin and collagen, the resistance of the vascular wall decreases, which leads to hemorrhages and vascularization disorders of organs. Children are born prematurely; hypothermia and indirect hyperbilirubinemia often occur in the early neonatal period. Characteristic facial features at birth: thick overhanging jaws, swollen cheeks, peculiar lips ("Cupid's bow"), abnormal hair and eyebrows, hypermobility of joints, diverticula of the bladder and urethra. Severe diarrhea, neurological disorders (muscle hypotonia, delayed psychomotor development, convulsive syndrome) develop. Infectious lesions of the urinary system quickly join in, pneumonia and sepsis are possible. Without treatment, children die at the age of 2-3 years.

The diagnosis is based on the detection of angiopathies during arteriography, hemorrhages, including intracranial, and the characteristic phenotype of the newborn. X-ray examination diagnoses changes in the metaphyses, fractures, and osteoporosis.

Treatment of Menkes disease

Copper histidinate is prescribed, the initial dose for newborns is 100-200 mg/day, and the treatment is subsequently adjusted under the control of copper saturation.