Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome

Clarke, Angus John, Gardner-Medwin, David, Richardson, Julian, McGann, Angela, Bonham, Julian R, Carpenter, Kevin H, Bhattacharya, Shomi, Haggerty, Daisy, Fleetwood, J Arnott and Aynsley-Green, Albert 1990. Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome. Brain and Development 12 (1) , pp. 119-124. 10.1016/S0387-7604(12)80191-4

Full text not available from this repository.

Abstract

The pathogenetic basis of the Rett syndrome (RS) is unknown: an X-linked dominant, male-lethal gene defect is thought likely. We present a girl with RS who has defects both of the urea cycle and of carbohydrate metabolism resulting in fasting hypoglycaemia, post-prandial hyperlactataemia and excess urinary orotic acid excretion after alanine load. Her sister has a similar clinical picture, but less marked metabolic anomalies. The mother of these sisters has abnormal urinary orotic acid excretion; she transmitted opposite ornithine carbomoyltransferase (OCT) alleles to the two girls. Another girl with RS has similar metabolic responses to fasting and to carbohydrate load. We conclude that RS may be an aetiologically homogeneous condition, but that it includes a variable pattern of metabolic anomalies, and that the gene defect is distinct from the OCT locus.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Rett syndrome; hyperammonaemia; orotic acid; lactic acid; ornithine carbamoyltransferase.
Publisher: Elsevier
ISSN: 0387-7604
Last Modified: 04 Jun 2017 06:28
URI: http://orca-mwe.cf.ac.uk/id/eprint/60577

Citation Data

Cited 13 times in Google Scholar. View in Google Scholar

Cited 13 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item