Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene

Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy pr...

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Bibliographische Detailangaben
Veröffentlicht in:J Pediatr Neurosci
Hauptverfasser: Gowda, Vykuntaraju Kammasandra, Nagarajan, Balamurugan, Srinivasan, Varunvenkat M., Bhat, Maya
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wolters Kluwer - Medknow 2021
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8276965/
https://ncbi.nlm.nih.gov/pubmed/34316315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_63_20
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