Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 13 for Methylmalonic aciduria
  1. MMADHC gene 
    ... More About This Health Condition C2orf25 cblD CL25022 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria methylmalonic aciduria ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  2. MMAA gene 
    ... methylmalonic acidemia. More About This Health Condition cblA methylmalonic aciduria (cobalamin deficiency) cblA type methylmalonic aciduria (cobalamin deficiency) ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  3. MMAB gene 
    ... Adenosyltransferase ATR cblB CFAP23 cob(I)alamin adenosyltransferase methylmalonic aciduria (cobalamin deficiency) cblB type methylmalonic aciduria (cobalamin deficiency) ...
    https://medlineplus.gov/genetics/gene/mmab - Genetics
  4. MMACHC gene 
    ... homocystinuria. More About This Health Condition cblC DKFZP564I122 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria methylmalonic aciduria ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  5. ACSF3 gene 
    ... been found in people with combined malonic and methylmalonic aciduria (CMAMMA), a condition characterized by elevated levels of ... J, Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene ...
    https://medlineplus.gov/genetics/gene/acsf3 - Genetics
  6. MCEE gene 
    ... methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. ... CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab. 2006 Aug;88(4):327- ...
    https://medlineplus.gov/genetics/gene/mcee - Genetics
  7. SUCLA2 gene 
    ... Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 ... Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [updated 2023 Sep 28]. In: ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  8. SUCLG1 gene 
    ... Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Adam MP, Feldman J, ... associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur J Pediatr. 2010 Feb;169(2):201- ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  9. MMUT gene 
    ... Ioannou PA. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. Hum Mutat. 2002 ... P, Rosenblatt DS. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and ...
    https://medlineplus.gov/genetics/gene/mmut - Genetics
  10. PRDX1 gene 
    ... mutations) in the PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi- ... molecules leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Research suggests that PRDX1 gene variants ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
previous · 1 · 2 · next