Abstract:Mutations in the
MMADHC
gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria (MMA), homocystinuria (HC), or combined MMA/HC, and usually suffer developmental delay and cognitive deficits. The most frequent
MMADHC
genetic alterations associated with disease generate MMADHC truncated proteins, in many cases due to mutations that… Show more
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