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

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...

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Veröffentlicht in:Brain & development (Tokyo. 1979) 1990, Vol.12 (1), p.119-124
Hauptverfasser: Clarke, Angus, Gardner-Medwin, David, Richardson, Julian, McGann, Angela, Bonham, Julian R, Carpenter, Kevin H, Bhattacharya, Shomi, Haggerty, Daisy, Fleetwood, J Arnott, Aynsley-Green, Albert
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container_end_page 124
container_issue 1
container_start_page 119
container_title Brain & development (Tokyo. 1979)
container_volume 12
creator Clarke, Angus
Gardner-Medwin, David
Richardson, Julian
McGann, Angela
Bonham, Julian R
Carpenter, Kevin H
Bhattacharya, Shomi
Haggerty, Daisy
Fleetwood, J Arnott
Aynsley-Green, Albert
description 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.
doi_str_mv 10.1016/S0387-7604(12)80191-4
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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.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>2344006</pmid><doi>10.1016/S0387-7604(12)80191-4</doi><tpages>6</tpages></addata></record>
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subjects Adolescent
Carbohydrate Metabolism
Child
Child, Preschool
Female
Genetic Linkage
Humans
hyperammonaemia
lactic acid
Metabolic Diseases - etiology
ornithine carbamoyltransferase
Ornithine Carbamoyltransferase - genetics
Ornithine Carbamoyltransferase Deficiency Disease
orotic acid
Rett syndrome
Rett Syndrome - genetics
Rett Syndrome - metabolism
Rett Syndrome - physiopathology
Urea - blood
title Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome
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