Article
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
European journal of medical genetics - 1 Dec 2012
Hertecant Jozef L, Ben-Rebeh Imen, Marah Muhaned A, Abbas Thikra, Ayadi Leila, Ben Salem Salma, Al-Jasmi Fatma A, Al-Gazali Lihadh, Al-Yahyaee Said A, Ali Bassam R
Abstract excerpt
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms of the disease. Here, we investigate the clinical and molecular features of Arab patients with IVA. Patients from five unrelated families were evaluated clinically and...
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