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Results 1 - 10 of 61 for Aciduria
  1. clpb-deficiency 
    ... 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This abnormality, which provides a clue to the ... signs and symptoms of the condition. 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  2. costeff-syndrome 
    ... 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). The amount of this substance does not appear ... be diagnosed by the presence of 3-methylglutaconic aciduria. People with Costeff syndrome also have high levels ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  3. mmadhc 
    ... About This Health Condition C2orf25 cblD CL25022 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria methylmalonic aciduria and homocystinuria type D protein, mitochondrial methylmalonic aciduria ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  4. megdel-syndrome 
    ... named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like ... 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL syndrome is one of a group of ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  5. sucla2-related-mitochondrial-dna-depletion-syndrome 
    ... depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome, encephalomyopathic form with or ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  6. 3-methylglutaconyl-coa-hydratase-deficiency 
    ... excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of ... levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  7. dilated-cardiomyopathy-with-ataxia-syndrome 
    ... of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine ... signs and symptoms of the condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  8. suclg1-related-mitochondrial-dna-depletion-syndrome 
    ... the condition. Fatal infantile lactic acidosis with methylmalonic aciduria Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MTDPS9 Succinate-coenzyme A ligase deficiency SUCLG1 deficiency ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  9. 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
  10. barth-syndrome 
    ... of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria).Even though most features of Barth syndrome are ... X-linked traits to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
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