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Elevated urinary 2-methyl-3-hydroxybutyric acid level

MedGen UID:
1054164
•Concept ID:
CN377435
•
Finding
HPO: HP:6000603

Definition

The amount of 2-methyl-3-hydroxybutyric 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  
  • CROGVElevated urinary 2-methyl-3-hydroxybutyric acid level

Conditions with this feature

Deficiency of acetyl-CoA acetyltransferase
MedGen UID:
280689
•Concept ID:
C1536500
•
Disease or Syndrome
Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.
See: Condition Record
Deficiency of acetyl-CoA acetyltransferase

Recent clinical studies

Diagnosis

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y
J Hum Genet 2014 Nov;59(11):609-14. Epub 2014 Sep 18 doi: 10.1038/jhg.2014.79. PMID: 25231369

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