methylmalonic aciduria and homocystinuria type cblC
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
What is methylmalonic aciduria and homocystinuria type cblC?
methylmalonic aciduria and homocystinuria type cblC is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.
If you think you may have methylmalonic aciduria and homocystinuria type cblC, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with methylmalonic aciduria and homocystinuria type cblC
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.