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Results 41 - 50 of 60 for Aciduria
  1. CLPB gene 
    ... with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303- ... cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  2. SLC25A1 gene 
    ... found to cause a form of 2-hydroxyglutaric aciduria called combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). This condition causes severe ... causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  3. ACSF3 gene 
    ... found in people with combined malonic and methylmalonic aciduria (CMAMMA), a condition characterized by elevated levels of ... Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene ...
    https://medlineplus.gov/genetics/gene/acsf3 - Genetics
  4. MCEE gene 
    ... CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. ... epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab. 2006 Aug;88(4):327- ...
    https://medlineplus.gov/genetics/gene/mcee - Genetics
  5. Amish lethal microcephaly 
    ... can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend ... in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly. SLC25A19 This condition ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  6. OPA3 gene 
    ... Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy ... WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  7. SERAC1 gene 
    ... a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh- ... in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110(1- ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  8. Beta-ketothiolase deficiency 
    ... 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha-methylacetoacetic aciduria MAT deficiency Methylacetoacetyl-coenzyme A thiolase deficiency Mitochondrial ...
    https://medlineplus.gov/.../condition/beta-ketothiolase-deficiency - Genetics
  9. SUCLG1 gene 
    ... Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Adam MP, Feldman J, ... with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur J Pediatr. 2010 Feb;169(2):201- ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  10. Malonyl-CoA decarboxylase deficiency 
    ... the condition. Deficiency of malonyl-CoA decarboxylase Malonic aciduria Malonyl-coenzyme A decarboxylase deficiency MCD deficiency Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase Malonic aciduria National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../malonyl-coa-decarboxylase-deficiency - Genetics
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