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 15 for Abnormality of vitamin metabolism
  1. Methylmalonic acidemia with homocystinuria 
    ... an inborn error of cobalamin metabolism and developmental abnormalities. Hum ... cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1): ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  2. ABCD4 gene 
    ... in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. ... atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  3. MMADHC gene 
    ... B. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358( ... and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism. Mol Genet Metab. 2011 Feb;102(2):139- ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  4. Imerslund-Gräsbeck syndrome 
    ... in biology from patients with inborn errors of vitamin B12 metabolism. Biochimie. 2013 May;95(5):1019-22. doi: 10.1016/j.biochi.2013.01.013. Epub 2013 Feb 10. Citation on PubMed
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome - Genetics
  5. PRDX1 gene 
    ... in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022 Apr 19;14(1): ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  6. LMBRD1 gene 
    ... LMBRD1: the gene for the cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1): ...
    https://medlineplus.gov/genetics/gene/lmbrd1 - Genetics
  7. FOLR1 gene 
    ... D, Rosenblatt DS. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. J Inherit Metab Dis. 2012 Jul;35(4): ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  8. Biotin-thiamine-responsive basal ganglia disease 
    ... into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. In this disorder, abnormalities affect several parts of the brain. Using medical ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  9. MMACHC gene 
    ... developmental delay, eye defects, neurological problems, and blood ... transport of vitamin B12, impairing production of both AdoCbl and MeCbl. ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  10. Chylomicron retention disease 
    ... the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet. 2008 Dec;74(6):546-52. doi: 10.1111/j.1399-0004.2008.01069.x. Epub 2008 Sep 11. Citation on PubMed
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
previous · 1 · 2 · next