autosomal recessive aminoacidopathy due to deficiency of isovaleryl-CoA dehydrogenase, with elevated plasma isovaleric acid and urinary isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet; clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia.

Data Correlations | 1 study

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Genes	Score
IVD	100

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Biogroups	Score
Valine Leucine and Isoleucine Degra…	100

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Individual Studies
OMIM - Congenital disorder Homo sapiens |   Mutations/Phenotypic This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories. Source: NextBio Library/Mutation and Phenotypic data

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Literature | 172 results

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• A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

  Authors: Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C Huey, Jörn Oliver Sass, Steven D Edland, Barbara K Burton, Susan A Berry, René Santer, Sarah Grünert,…

  American journal of human genetics 2004 Dec

• Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.

  Authors: Yosuke Shigematsu, Ikue Hata, Go Tajima

  Journal of inherited metabolic disease 2010 May 4

Associated Researchers

Thought leaders and organizations working on research involving isovaleric acidemia.

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• J Vockley
• Moacir Wajner
• Lian-shu Han
• Wen-juan Qiu
• Jun Ye

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• National Center for Research Resources (NCRR)

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• University of Fukui
• China Medical University Hospital
• Istanbul University
• Instituto de Ciências Básicas da Saúde
• Mayo Clinic and Mayo Foundation

Clinical Trials | 1 trial

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• Diagnostic and Screening Study of Genetic Disorders

  conditions: Tay-Sachs Disease ; Porphyria, Erythropoietic ; Leukodystrophy, Globoid Cell ; Metabolism, Inborn Errors

  interventions: none

   

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