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Disorder of organic acid metabolism

MedGen UID:
468982
•Concept ID:
C1263739
•
Disease or Syndrome
Synonyms: Organic acidemia; Organic Acidemias
SNOMED CT: Disorder of organic acid metabolism (116021002); Organic acid metabolism disorder (116021002)
 
Related genes: MMAB, MMAA, MCEE, MCCC2, MCCC1, MMADHC, MMACHC, PCCB, PCCA, PRDX1, MMUT, IVD, HMGCL, GCDH, DBT, BCKDHB, BCKDHA, ACAT1
 
Monarch Initiative: MONDO:0045022

Definition

An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. PMID: 34704419Free PMC Article

Recent clinical studies

Etiology

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE
Metab Brain Dis 2022 Jun;37(5):1317-1335. Epub 2022 Mar 29 doi: 10.1007/s11011-022-00954-1. PMID: 35348993
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. PMID: 34704419Free PMC Article
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.
Wong ES, McIntyre C, Peters HL, Ranieri E, Anson DS, Fletcher JM
Hum Gene Ther 2014 Jun;25(6):529-38. Epub 2014 Apr 2 doi: 10.1089/hum.2013.111. PMID: 24568291Free PMC Article
Glutaric aciduria type I: a neuroimaging diagnosis?
Santos CC, Roach ES
J Child Neurol 2005 Jul;20(7):588-90. doi: 10.1177/08830738050200070901. PMID: 16159525
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Tahara T, Kraus JP, Rosenberg LE
Proc Natl Acad Sci U S A 1990 Feb;87(4):1372-6. doi: 10.1073/pnas.87.4.1372. PMID: 2154743Free PMC Article

Diagnosis

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE
Metab Brain Dis 2022 Jun;37(5):1317-1335. Epub 2022 Mar 29 doi: 10.1007/s11011-022-00954-1. PMID: 35348993
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. PMID: 34704419Free PMC Article
L-2 hydroxyglutaric aciduria presenting with status epilepticus.
Işikay S
BMJ Case Rep 2013 Jun 7;2013 doi: 10.1136/bcr-2013-010164. PMID: 23749865Free PMC Article
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
Gökçen C, Isikay S, Yilmaz K
BMJ Case Rep 2013 Jun 6;2013 doi: 10.1136/bcr-2013-009512. PMID: 23749824Free PMC Article
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH
Am J Hum Genet 1988 Jun;42(6):839-46. PMID: 2897160Free PMC Article

Therapy

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE
Metab Brain Dis 2022 Jun;37(5):1317-1335. Epub 2022 Mar 29 doi: 10.1007/s11011-022-00954-1. PMID: 35348993
L-2 hydroxyglutaric aciduria presenting with status epilepticus.
Işikay S
BMJ Case Rep 2013 Jun 7;2013 doi: 10.1136/bcr-2013-010164. PMID: 23749865Free PMC Article
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
Gökçen C, Isikay S, Yilmaz K
BMJ Case Rep 2013 Jun 6;2013 doi: 10.1136/bcr-2013-009512. PMID: 23749824Free PMC Article
Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.
Mete A, Isikay S, Sirikci A, Ozkur A, Bayram M
Pediatr Neurol 2012 Mar;46(3):195-7. doi: 10.1016/j.pediatrneurol.2012.01.008. PMID: 22353300
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Burri BJ, Sweetman L, Nyhan WL
J Clin Invest 1981 Dec;68(6):1491-5. doi: 10.1172/jci110402. PMID: 6798072Free PMC Article

Prognosis

Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. PMID: 34704419Free PMC Article
L-2 hydroxyglutaric aciduria presenting with status epilepticus.
Işikay S
BMJ Case Rep 2013 Jun 7;2013 doi: 10.1136/bcr-2013-010164. PMID: 23749865Free PMC Article
Neonatal onset propionic acidemia without acidosis: a case report.
Akman I, Imamoğlu S, Demirkol M, Alpay H, Ozek E
Turk J Pediatr 2002 Oct-Dec;44(4):339-42. PMID: 12458812
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Tahara T, Kraus JP, Rosenberg LE
Proc Natl Acad Sci U S A 1990 Feb;87(4):1372-6. doi: 10.1073/pnas.87.4.1372. PMID: 2154743Free PMC Article
Primary structure and activity of mouse methylmalonyl-CoA mutase.
Wilkemeyer MF, Crane AM, Ledley FD
Biochem J 1990 Oct 15;271(2):449-55. doi: 10.1042/bj2710449. PMID: 1978672Free PMC Article

Clinical prediction guides

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE
Metab Brain Dis 2022 Jun;37(5):1317-1335. Epub 2022 Mar 29 doi: 10.1007/s11011-022-00954-1. PMID: 35348993
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. PMID: 34704419Free PMC Article
Mouse models for methylmalonic aciduria.
Peters HL, Pitt JJ, Wood LR, Hamilton NJ, Sarsero JP, Buck NE
PLoS One 2012;7(7):e40609. Epub 2012 Jul 9 doi: 10.1371/journal.pone.0040609. PMID: 22792386Free PMC Article
Primary structure and activity of mouse methylmalonyl-CoA mutase.
Wilkemeyer MF, Crane AM, Ledley FD
Biochem J 1990 Oct 15;271(2):449-55. doi: 10.1042/bj2710449. PMID: 1978672Free PMC Article
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
Jansen R, Ledley FD
Am J Hum Genet 1990 Nov;47(5):808-14. PMID: 1977311Free PMC Article

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