Methylmalonic acidemia with homocystinuria type cblC

Disease Overview

Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.[7470]

Synonyms

• Methylmalonic aciduria and homocystinuria, cblC type
• Methylmalonic acidemia and homocystinuria cblc
• Cobalamin C disease
• cblC
• Methylmalonic aciduria and homocystinuria cblc