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Results 21 - 30 of 60 for Aciduria
  1. Fumarase deficiency 
    ... renal cell cancer (HLRCC). Fumarate hydratase deficiency Fumaric aciduria Genetic Testing Registry: Fumarase deficiency Fumaric aciduria National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
  2. Glutamate formiminotransferase deficiency 
    ... the condition. Arakawa syndrome 1 FIGLU-uria Formiminoglutamic aciduria Formiminotransferase deficiency Genetic Testing Registry: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY ...
    https://medlineplus.gov/...glutamate-formiminotransferase-deficiency - Genetics
  3. Ethylmalonic encephalopathy 
    ... symptoms of the condition. Encephalopathy, petechiae, and ethylmalonic aciduria EPEMA syndrome Genetic Testing Registry: Ethylmalonic encephalopathy Ethylmalonic ...
    https://medlineplus.gov/.../condition/ethylmalonic-encephalopathy - Genetics
  4. Glutathione synthetase deficiency 
    ... synthase Deficiency of glutathione synthetase Pyroglutamic acidemia Pyroglutamic aciduria Genetic Testing Registry: Glutathione synthetase deficiency with 5- ...
    https://medlineplus.gov/.../glutathione-synthetase-deficiency - Genetics
  5. Propionic acidemia 
    ... acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  6. HSD10 disease 
    ... dehydrogenase type 10 deficiency 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2M3HBA ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  7. Glutaric acidemia type II 
    ... adipicaciduria GA II Glutaric acidemia, type 2 Glutaric aciduria, type 2 MAD MADD Multiple acyl-CoA dehydrogenase ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii - Genetics
  8. GRACILE syndrome 
    ... Finnish lethal neonatal metabolic syndrome Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  9. Lesch-Nyhan syndrome 
    ... hyperuricemia X-linked primary hyperuricemia X-linked uric aciduria enzyme defect Genetic Testing Registry: Lesch-Nyhan syndrome ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  10. Holocarboxylase synthetase deficiency 
    Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple ...
    https://medlineplus.gov/.../holocarboxylase-synthetase-deficiency - Genetics
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