A rare case of type i glutaric aciduria in an early child

A rare case of type i glutaric aciduria in an early child

Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH). Cerebral organic aciduria, caused by a deficiency of glutaryl-COA - dehydroge...

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Bibliographic Details
Main Authors: A. A. Lebedenko, S. B. Berezhanskay, A. S. Todorova, N. N. Vostrykh, E. Y. Kaushanskay, E. A. Lukyanova, E. A. Papsheva, G. N. Smykova, L. N. Taranenko
Format: Article
Language:English
Published: State Budget Educational Institute of Higher Professional Education, Rostov State Medical University, Ministry Health of Russian Federation 2020-12-01
Series:Медицинский вестник Юга России
Subjects:
newborns
children
type i glutaric aciduria
metabolic crises
atrophy of the cortex and subcortical nuclei
dystonic hyperkinesis
Online Access:https://www.medicalherald.ru/jour/article/view/1300
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