HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Search for Related Content

Inherited metabolic disease

G252 COPPER HISTIDINE TREATMENT IN MENKES DISEASE
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, . . . [Full text of this article]