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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2021-01-01
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| Series: | Annals of Movement Disorders |
| Subjects: | |
| Online Access: | http://www.aomd.in/article.asp?issn=2590-3446;year=2021;volume=4;issue=1;spage=42;epage=45;aulast=Agarwal |