Defective MUT causes MMAM

Stable Identifier
R-HSA-3359478
Type
Pathway
Species
Homo sapiens
Synonyms
Defective MUT causes methylmalonic aciduria mut type
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Defects in MUT cause methylmalonic aciduria, mut type (MMAM; MIM:251000), an often fatal disorder of organic acid metabolism (Worgan et al. 2006).

Literature References
PubMed ID Title Journal Year
16281286 Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

Niles, K, Worgan, LC, Rosenblatt, DS, Lepage, P, Hofmann, A, Kucic, T, Tirone, JC, Sammak, A, Verner, A

Hum. Mutat. 2006
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