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Results 51 - 60 of 60 for Aciduria
  1. MVK gene 
    ... and the more severe type is called mevalonic aciduria (MVA). Most of the MVK gene mutations that ... D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. ...
    https://medlineplus.gov/genetics/gene/mvk - Genetics
  2. HMGCL gene 
    ... into catalysis and the molecular basis for hydroxymethylglutaric aciduria. J Biol Chem. 2006 Mar 17;281(11): ... FG. Molecular basis of 3-hydroxy-3-methylglutaric aciduria. J Physiol Biochem. 2003 Dec;59(4):311- ...
    https://medlineplus.gov/genetics/gene/hmgcl - Genetics
  3. ALDH5A1 gene 
    ... N. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). Eur J Paediatr Neurol. 2004;8(5):261- ...
    https://medlineplus.gov/genetics/gene/aldh5a1 - Genetics
  4. MMUT gene 
    ... S, Baumgartner ER. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, ... PA. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. Hum Mutat. 2002 ...
    https://medlineplus.gov/genetics/gene/mmut - Genetics
  5. SUCLA2 gene 
    ... RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 ... Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [updated 2023 Sep 28]. In: ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  6. GCDH gene 
    ... gene in Italian and Portuguese patients with glutaric aciduria type I. Mol Genet Metab. 2000 Nov;71( ...
    https://medlineplus.gov/genetics/gene/gcdh - Genetics
  7. Transcobalamin deficiency 
    ... body, resulting in metabolic conditions known as methylmalonic aciduria or homocystinuria. The prevalence of transcobalamin deficiency is ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  8. Homocystinuria 
    ... ACTIVITY HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE; HMAE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  9. Isovaleric acidemia 
    ... acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause ...
    https://medlineplus.gov/genetics/condition/isovaleric-acidemia - Genetics
  10. ETFB gene 
    ... W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. ...
    https://medlineplus.gov/genetics/gene/etfb - Genetics
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