Methylmalonicacidemia with homocystinuria, cbl J
Overview
Methylmalonicacidemia with homocystinuria, cobalamin (cbl) J: It is a type of organic acid disorder. People with methylmalonicacidemia and homocystinuria have problems breaking down and using certain amino acids and fatty acids from the food they eat. More specifically, people with "Methylmalonicacidemia with homocystinuria, cbl J are unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke.
Symptoms
Symptoms are similar as in "Methylmalonicaciduria with homocystinuria, cobalamin F".
Causes
Methylmalonicacidemia with homocystinuria, cobalamin (cbl) is caused by a defect in the gene ABCD4, which is associated with the transport of vitamin B12. Hence, this leads to a vitamin B12 deficiency. But vitamin B12, or cobalamin, is essential for healthy functioning of the human nervous system and red blood cell synthesis.