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Isovaleric acidemia, type II

MedGen UID:
866279
•Concept ID:
C4017842
•
Finding
Synonym: ISOVALERIC ACIDEMIA, TYPE II
 
OMIM®: 607036

Recent clinical studies

Etiology

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
Sarker SK, Islam MT, Biswas A, Bhuyan GS, Sultana R, Sultana N, Rakhshanda S, Begum MN, Rahat A, Yeasmin S, Khanam M, Saha AK, Noor FA, Sajib AA, Islam ABMMK, Qadri SK, Shahidullah M, Mannan MA, Muraduzzaman AKM, Shirin T, Rahman SM, Qadri SS, Saha N, Akhteruzzaman S, Qadri F, Mannoor K
Biomed Res Int 2019;2019:3460902. Epub 2019 Jan 6 doi: 10.1155/2019/3460902. PMID: 30723736Free PMC Article
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.
Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW
Clin Chem 2001;47(7):1166-82. PMID: 11427446
Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants.
Wasant P, Naylor EW, Liammongkolkul S
Southeast Asian J Trop Med Public Health 1999;30 Suppl 2:154-9. PMID: 11400758
The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.
Vockley J, Nagao M, Parimoo B, Tanaka K
J Biol Chem 1992 Feb 5;267(4):2494-501. PMID: 1310317
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: 2063866Free PMC Article

Diagnosis

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
Sarker SK, Islam MT, Biswas A, Bhuyan GS, Sultana R, Sultana N, Rakhshanda S, Begum MN, Rahat A, Yeasmin S, Khanam M, Saha AK, Noor FA, Sajib AA, Islam ABMMK, Qadri SK, Shahidullah M, Mannan MA, Muraduzzaman AKM, Shirin T, Rahman SM, Qadri SS, Saha N, Akhteruzzaman S, Qadri F, Mannoor K
Biomed Res Int 2019;2019:3460902. Epub 2019 Jan 6 doi: 10.1155/2019/3460902. PMID: 30723736Free PMC Article
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Wasant P, Liammongkolkul S, Kuptanon C, Vatanavicharn N, Sathienkijakanchai A, Shinka T
Clin Chim Acta 2008 Jun;392(1-2):63-8. Epub 2008 Feb 23 doi: 10.1016/j.cca.2008.02.015. PMID: 18339316
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.
Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW
Clin Chem 2001;47(7):1166-82. PMID: 11427446
Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants.
Wasant P, Naylor EW, Liammongkolkul S
Southeast Asian J Trop Med Public Health 1999;30 Suppl 2:154-9. PMID: 11400758
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.
Shigematsu Y, Hata I, Nakai A, Kikawa Y, Sudo M, Tanaka Y, Yamaguchi S, Jakobs C
Pediatr Res 1996 Apr;39(4 Pt 1):680-4. doi: 10.1203/00006450-199604000-00020. PMID: 8848345

Prognosis

The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.
Vockley J, Nagao M, Parimoo B, Tanaka K
J Biol Chem 1992 Feb 5;267(4):2494-501. PMID: 1310317
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: 2063866Free PMC Article

Clinical prediction guides

The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.
Vockley J, Nagao M, Parimoo B, Tanaka K
J Biol Chem 1992 Feb 5;267(4):2494-501. PMID: 1310317
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: 2063866Free PMC Article
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Dubiel B, Dabrowski C, Wetts R, Tanaka K
J Clin Invest 1983 Nov;72(5):1543-52. doi: 10.1172/JCI111113. PMID: 6630517Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    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

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