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Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1

Year: 2025

Type: article

Abstract: Glutaric aciduria type 1 (GA-1) is a rare autosomal recessive metabolic disorder caused by the deficient activity of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). This leads to the accumulation of neurotoxic metabolites, resulting in basal ganglia injury and neurologic dysfunction. We report a case of a one-and-a-half-year-old Indian male with GA-1 harboring a novel homozygous missense variant in exon 11 of the GCDH gene. The report highlights diagnostic challenges, the significance of genetic testing, and the effect of early intervention in these patients. Prompt recognition remains essential to prevent irreversible neurological sequelae.

Source: Cureus

DOI: 10.7759/cureus.97016

Authors: Preeti Srivastava, Sumeet S Biswal, Ratan Kumar, Shikha Swaroop, Sanjay K Tanti

Institutions: Manipal Academy of Higher Education, Tata Main Hospital, Manipal-Tata Medical College, Jamshedpur

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4416300692