Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism that occurs mostly in neonatal age, with megaloblastic anemia, lethargy, growth /development delay, cognitive deficiency and seizures, acute visual and neurological deterioration. More rarely it occurs during childhood or adolescence, with psychiatric symptoms or with marrow degeneration.

It is a metabolic disorder belonging to the group of organic acidurias characterized by a dysfunction of the metabolism of some amino acids.

CblC is one of about 600 Inherited Metabolic Diseases and is transmitted in an autosomal recessive manner: when both parents are carriers of a mutation in one of the involved genes, they have a 1 in 4 (25%) chance in each pregnancy that the child will have the disease. There is also a 1 in 2 (50%) chance that the baby is a carrier, like the parents, and a 1 in 4 (25%) chance for the baby to have inherited two normal genes. Prenatal diagnosis is possible and early diagnosis is possible thanks to neonatal metabolic screening.

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