An X‐linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease

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Abstract
Two of 4 affected boys with a new disease associated with abnormalities of Cu metabolism were studied. The 4 cases occurred in 2 generations of a family. This syndrome was similar to Menkes disease in some respects: X-linked recessive inheritance, marked psychomotor retardation with seizures, low serum Cu and ceruloplasmin levels and a block in gut Cu absorption. There were also striking differences from Menkes disease. Patients had normal birthweight at term, no hypothermia and survived beyond the usual Menkes age group with static neurologic disease including hypotonia and choreoathetosis. General examination of both children was unremarkable apart from undescended testes and growth retardation. The hair, facies and skin were normal and there was no radiologic evidence of bony changes. Detailed studies of Cu absorption were performed.

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