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

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, 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

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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:	25 Oct 2022 09:57
URI:	https://orca.cardiff.ac.uk/id/eprint/60577

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