Methylmalonic aciduria and homocystinuria, cblC type is a metabolic disorder that affects how the body processes a protein called cobalamin, also known as vitamin B12.
The most common form is called cblC. This disorder can appear in different stages of life, from newborns to adults, and it can cause various symptoms like small size, feeding issues, developmental delays, seizures, confusion, and more. Unfortunately, there is no cure for this disorder, but managing symptoms is important. Critically ill individuals need specialized care, dietary changes might help, and sometimes medications can be effective. Stabilizing the condition and addressing specific symptoms are the primary approaches.
Methylmalonic aciduria and homocystinuria is caused by pathogenic (disease-causing) variants in one of several genes and the testing we provide includes the MMACHC gene which exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
National Organization for Rare Disorders
Revised November 2023
