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Elevated urine suberic acid level

MedGen UID:
Concept ID:
Synonym: Elevated urine octanedioic acid level
HPO: HP:0033213


The concentration of suberic 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 urine suberic acid level

Conditions with this feature

Deficiency of malonyl-CoA decarboxylase
MedGen UID:
Concept ID:
Disease or Syndrome
Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001).
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented between day 2 of life and early childhood (up to age 20 months) with hyperammonemic encephalopathy (i.e., lethargy, feeding intolerance, weight loss, tachypnea, seizures, and coma). Given that fewer than 20 affected individuals have been reported to date, the ranges of initial presentations and long-term prognoses are not completely understood. As of 2021 the oldest known affected individual is an adolescent. Almost all affected individuals reported to date have shown normal psychomotor development and no further episodes of metabolic crisis; however, a few have shown mild learning difficulties or delayed motor skills.

Recent clinical studies


Ishiguro Y, Kajita M, Aoshima T, Watanabe K, Kimura M, Yamaguchi S
Brain Dev 2001 Mar;23(2):128-30. doi: 10.1016/s0387-7604(01)00181-4. PMID: 11248463
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

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