Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with resultant accumulation of glutaric acid and 3-hydroxy...

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Bibliographic Details
Main Authors: Ayush Agarwal, Divyani Garg, Sangeeta Agarwal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Annals of Movement Disorders
Subjects:
carnitine
dystonia
ga-1
glutaric
lysine
tms
Online Access:http://www.aomd.in/article.asp?issn=2590-3446;year=2021;volume=4;issue=1;spage=42;epage=45;aulast=Agarwal

Internet

http://www.aomd.in/article.asp?issn=2590-3446;year=2021;volume=4;issue=1;spage=42;epage=45;aulast=Agarwal

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