KEGG   VARIANT: 27249v1
Entry
27249v1                      Variant                               
Name
MMADHC deficiency
Type
Loss of function
Gene
MMADHC  metabolism of cobalamin associated D [KO:K26006]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611935
Network
nt06538  Cobalamin transport and metabolism
Disease
H02221  Methylmalonic aciduria and homocystinuria
Reference
PMID:22156578
  Authors
Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR
  Title
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
  Journal
Hum Mol Genet 21:1410-8 (2012)
DOI:10.1093/hmg/ddr579
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