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Article

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

Human molecular genetics - 15 Aug 2017

Zaki Osama K, Priya Doss C George, Ali Salsabil A, Murad Ghadeer G, Elashi Shaima A, Ebnou Maryam S A, Kumar D Thirumal, Khalifa Ola, Gamal Radwa, El Abd Heba S A, Nasr Bilal N, Zayed Hatem

Abstract excerpt

Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients' diagnoses were confirmed by urinary organic acid analysis and the blood C5-Carnitine value. A molecular genetic analysis of the IVD gene revealed nine different...

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PMID: 28535199
DOI: 10.1093/hmg/ddx195

Genes

IVD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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