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Isovaleric acidemia, type III

MedGen UID:: 865494
•Concept ID:: C4017057
•: Finding

Synonym:	ISOVALERIC ACIDEMIA, TYPE III

OMIM®:	607036

Professional guidelines

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022

American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022

Recent clinical studies

Etiology

Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.

Volchenboum SL, Vockley J
J Biol Chem 2000 Mar 17;275(11):7958-63. doi: 10.1074/jbc.275.11.7958. PMID: 10713113

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Vockley J, Parimoo B, Tanaka K
Am J Hum Genet 1991 Jul;49(1):147-57. PMID: 2063866 Free PMC Article

Prognosis

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Vockley J, Parimoo B, Tanaka K
Am J Hum Genet 1991 Jul;49(1):147-57. PMID: 2063866 Free PMC Article

Clinical prediction guides

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Vockley J, Parimoo B, Tanaka K
Am J Hum Genet 1991 Jul;49(1):147-57. PMID: 2063866 Free PMC Article

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Practice guidelines

Curated

ACMG ACT, 2022
American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022
ACMG Algorithm, 2022
American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022

Consumer resources

MedlinePlus

Reviews

Related information

ClinVar
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OMIM
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PMC Articles
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PubMed
Related literature resources in PubMed
PubMed (OMIM)
Related literature resources in PubMed

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Isovaleric acidemia, type III
Isovaleric acidemia, type III

MedGen
C4017057[conceptid] (1)
MedGen
Isovaleric acidemia, type II
Isovaleric acidemia, type II

MedGen
C4017842[trait identifier] AND "OMIM"[submitter] (1)
ClinVar
C4017842[conceptid] (1)
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