The clbC form of methylmalonic acidaemia is a rare and poorly understood condition which
results from impaired biosynthesis of methylcobalamin and adenosylcobalamin. The …

Purpose To describe the clinical and biochemical features and long-term outcome of a
cohort of eight patients with methylmalonic acidemia and homocystinuria (cbIC). Methods …

Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of
intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is …

Six biochemical and genetic forms of methylmalonic acidemia have been defined
previously: two (mut° and mut-) resulting from defects in the mutase apoenzyme, and four …

Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most
common inborn error of intracellular cobalamin metabolism. The disorder can display a wide …

BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria
(MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to …

A 20-year-old man was admitted to our service with bilateral paraplegia of the legs, loss of
bowel and bladder function, and chronic progressive encephalopathy. He had been well …

Cobalamin C (cblC) defects result in decreased activity of both methylmalonyl-CoA mutase
and N5-methyltetrahydrofolate: homocysteine methyltransferase (methionine synthase), with …

Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria
(MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes …

Isolated methylmalonic aciduria (MMA) is an inborn error of metabolism due to the impaired
isomerization of l-methylmalonyl-CoA to succinyl-CoA. This reaction is catalyzed by the …