A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous <scp> <i>IVD</i> </scp> Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow‐Up

gene variant (c.899_905delinsCCCACAG) in the proband, with both parents confirmed as carriers. The patient was treated with a leucine-restricted diet, glycine, L-carnitine, and arginine. Follow-up showed reduced metabolite levels and improved neurodevelopment. IVA is an autosomal recessive disorder caused by isovaleryl-CoA dehydrogenase deficiency, leading to toxic metabolite accumulation. Clinical symptoms are nonspecific, often resulting in misdiagnosis. Early use of MS/MS and genetic testing enables timely diagnosis and targeted treatment, improving outcomes.