This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Methylmalonic aciduria with homocystinuria cbl f is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism that can cause the following signs and symptoms: megaloblastic anemia, lack of energy, growth delays, developmental delay, intellectual disability and seizures. The appearance of signs and symptoms can vary from birth to 11 years old. The disorder is caused by mutations in the LMBRD1 gene and is transmitted in an autosomal recessive manner. Treatment options include vitamin B12 injections and dietary management.
For more information, visit GARD.