FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term organic acidemia ID (Ontology) DOID:0060159 (Human Disease)
Definition An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
Also Known As "organic acid metabolism disorder" ; "organic aciduria"
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__organic acidemia  48 rec.
           |__3-methylglutaconic aciduria 29 rec.
           |   |__3-methylglutaconic aciduria type 1 3 rec.
           |   |__3-methylglutaconic aciduria type 3 3 rec.
           |   |__3-methylglutaconic aciduria type 4
           |   |__3-methylglutaconic aciduria type 5 2 rec.
           |   |__3-methylglutaconic aciduria type 8 1 rec.
           |   |__3-methylglutaconic aciduria type 9 3 rec.
           |   |__3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia(+)
           |   |__3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 rec.
           |   |__Barth syndrome 14 rec.
           |__combined malonic and methylmalonic acidemia 1 rec.
           |__glutaric acidemia I 1 rec.
           |__isovaleric acidemia 2 rec.
           |__maple syrup urine disease 9 rec.
           |__methylmalonic acidemia 5 rec.
           |   |__methylmalonic acidemia and homocysteinemia cblX type 1 rec.
           |   |__methylmalonic acidemia cblA type
           |   |__methylmalonic acidemia cblB type
           |   |__methylmalonic acidemia due to transcobalamin receptor defect
           |   |__methylmalonic aciduria and homocystinuria type cblC 2 rec.
           |   |__methylmalonic aciduria and homocystinuria type cblD 2 rec.
           |   |__methylmalonic aciduria and homocystinuria type cblE
           |   |__methylmalonic aciduria and homocystinuria type cblF
           |   |__methylmalonic aciduria and homocystinuria type cblG
           |   |__methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
           |__propionic acidemia 1 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "organic acid metabolism disorder" EXACT
    "organic aciduria" EXACT
Secondary IDs
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GARD:9433