Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

[homocystinuria without methylmalonic aciduria]

Methylmalonic aciduria and homocystinuria , cobalamin C (cblC ) type , is the most frequent inborn error of vitamin B 12 metabolism . The clinical phenotype includes systemic symptoms and neurological decompensation . Affected patients can be divided into two broad groups , as early -onset and late-onset . We present a Turkish patient who had neurological impairment at the age of four years as presented with late-onset cblC defect . Homozygous c .394 C <T ; p .R 132 * mutation in the MMACHC gene was detected . The patient was treated with hydroxocobalamin , betaine and folic acid combination with good clinical and biochemical response .

Diseases
Validation

Diseases presenting "mutation in the mmachc gene" symptom

homocystinuria without methylmalonic aciduria

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