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Results 31 - 40 of 60 for Aciduria
  1. Short/branched chain acyl-CoA dehydrogenase deficiency 
    Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  2. Short-chain acyl-CoA dehydrogenase deficiency 
    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  3. Methylmalonic acidemia 
    ... symptoms of the condition. Isolated methylmalonic acidemia Methylmalonic aciduria MMA Genetic Testing Registry: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Genetic Testing Registry: Methylmalonic aciduria, cblA type Genetic Testing Registry: Methylmalonic aciduria, cblB ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
  4. D2HGDH gene 
    ... mutations that cause a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type I. This condition has ... Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2010 Mar;31(3):279-83. ...
    https://medlineplus.gov/genetics/gene/d2hgdh - Genetics
  5. L2HGDH gene 
    ... gene that cause a type of 2-hydroxyglutaric aciduria known as L-2-hydroxyglutaric aciduria (L-2-HGA). This condition has a variety ... MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012 Jul;35(4): ...
    https://medlineplus.gov/genetics/gene/l2hgdh - Genetics
  6. Succinic semialdehyde dehydrogenase deficiency 
    ... signs and symptoms of the condition. 4-hydroxybutyric aciduria Gamma-hydroxybutyric acidemia Gamma-hydroxybutyric aciduria SSADH deficiency Genetic Testing Registry: Succinate-semialdehyde dehydrogenase ...
    https://medlineplus.gov/...nic-semialdehyde-dehydrogenase-deficiency - Genetics
  7. ASL gene 
    ... ASL gene have been found to cause argininosuccinic aciduria. In some cases, a short sequence of DNA ... problems and other signs and symptoms of argininosuccinic aciduria. It is unclear how a lack of arginine ...
    https://medlineplus.gov/genetics/gene/asl - Genetics
  8. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... A lyase deficiency 3-OH 3-CH3 glutaric aciduria 3-OH 3-methyl glutaric aciduria 3HMG Deficiency of hydroxymethylglutaryl-CoA lyase HMG HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria Genetic Testing Registry: Deficiency of hydroxymethylglutaryl-CoA lyase ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  9. IDH2 gene 
    ... found to cause a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type II. This condition has ... MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012 Jul;35(4): ...
    https://medlineplus.gov/genetics/gene/idh2 - Genetics
  10. AUH gene 
    ... of large amounts of these acids in urine (aciduria). Researchers speculate that an accumulation of these acids ... Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
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