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Increased level of methylsuccinic acid in urine

MedGen UID:
1647447
•Concept ID:
C4703648
•
Finding
Synonym: Increased level of pyrotartaric acid in urine
 
HPO: HP:0410153

Definition

The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased level of methylsuccinic acid in urine

Professional guidelines

PubMed

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. PMID: 22424739

Recent clinical studies

Etiology

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. PMID: 22424739

Diagnosis

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. PMID: 22424739
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S443-53. Epub 2010 Oct 27 doi: 10.1007/s10545-010-9227-y. PMID: 20978941
Organic acid and acylcarnitine profiles of glutaric aciduria type I.
Matsumoto M, Matsumoto I, Shinka T, Kuhara T, Imamura H, Shimao S, Okada T
Acta Paediatr Jpn 1990 Feb;32(1):76-82. doi: 10.1111/j.1442-200x.1990.tb00787.x. PMID: 2109491

Therapy

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S443-53. Epub 2010 Oct 27 doi: 10.1007/s10545-010-9227-y. PMID: 20978941

Prognosis

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. PMID: 22424739
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.
Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P
J Neurol 2002 Oct;249(10):1446-50. doi: 10.1007/s00415-002-0880-4. PMID: 12382164

Clinical prediction guides

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.
Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P
J Neurol 2002 Oct;249(10):1446-50. doi: 10.1007/s00415-002-0880-4. PMID: 12382164

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