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Inherited metabolic disease

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C. Durand1, P. W. Pairaudeau2, J. H. Walter1.1Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK; 2Women’s and Children’s Hospital, Hull Royal Infirmary, Hull, UK

Menkes disease is an X linked recessive disorder characterised by low copper levels in serum, brain and liver. Most patients with the disease have severe neurological degeneration, seizures and developmental delay. They show characteristic features of loose skin, “kinky” brittle hair, bladder diverticulae, inguinal hernias, hyper-extensive joints, and skeletal abnormalities. There is clinical variability within the disease but most patients suffer with the severe form and die before the age of 3 years. There is some evidence that early treatment with copper histidine can improve outcome in these patients.

Here we present a patient with a severe mutation (2213 g>t) in the Cu++ transporting ATPase gene, who because of a family history of classic Menkes disease, had an antenatal diagnosis, and was treated with copper histidine from birth.

The patient was born at 37 weeks, weight 2.64 kg. As expected, serum caeruloplasmin and Cu++ levels were low at birth. He was commenced on subcutaneous copper histidine injections, initially at 100 μg/d, which were increased incrementally to 600 μg/d by 5 months of age. His serum Cu++ levels have subsequently been within the normal range. His progress has been complicated by osteopenia resulting in a green stick fracture at 10 months and by the development of renal tubular disease but which resolved following a reduction in copper histidine to 400 μg/d. His weight and linear growth have been slow. At the age of 4½ years he is able to crawl and walk with support. His understanding is fair but he has only single words. He has not developed seizures. On examination he has …

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