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Defective MMAB causes methylmalonic aciduria type cblB

Defects in MMAB cause methylmalonic aciduria type cblB (cblB aka methylmalonic aciduria type B or vitamin B12 responsive methylmalonicaciduria of cblB complementation type; MIM:251110). Affected individuals have methylmalonic aciduria and episodes of metabolic ketoacidosis, despite a functional methylmalonyl CoA mutase. In severe cases, newborns become severely acidotic and may die if acidosis is not treated promptly (Dobson et al. 2002).

from REACTOME source record: REACT_169318
Type: pathway
Taxonomic scope
organism-specific biosystem
Homo sapiens

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