Article
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Molecular genetics and metabolism - 1 Nov 2012
Mercimek-Mahmutoglu S, Sinclair G, van Dooren S J M, Kanhai W, Ashcraft P, Michel O J, Nelson J, Betsalel O T, Sweetman L, Jakobs C, Salomons G S
Abstract excerpt
BACKGROUND: GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis resulting in severe neurological complications in untreated patients. Currently available treatment is only successful to stop disease progression, but is not sufficient to reverse neurological complications occurring prior to diagnosis. Normal neurodevelopmental outcome in a patient, treated in the newborn period, highlights...
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