Article
Prenatal diagnosis in adenylosuccinate lyase deficiency.
Prenatal diagnosis - 1 Jan 2000
Marie S, Flipsen J W, Duran M, Poll-The B T, Beemer F A, Bosschaart A N, Vincent M F, Van den Berghe G
Abstract excerpt
Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Most patients display severe psychomotor retardation, often accompanied by epilepsy and/or autistic features, although some are only mildly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.