Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings : a new recessive syndrome ?

摘要: Two siblings with atypical methylmalonic aciduria and progressive encephalopathy are reported. Initial symptoms were failure to thrive growth retardation from the first year of life, progressing severe mental retardation, microcephaly, dystonia, spasticity cataracts. The amount acid excreted in urine was substantially lower than classical acidemia not reduced by vitamin B12 therapy. activity methylmalonyl-CoA mutase overall assay propionic metabolism cultured fibroblasts normal. primary defect this probably new autosomal recessive disorder associated is currently known.