Methylmalonic aciduria with homocystinuria cbl f
Other Names for this Disease
- CblF defect
- Cobalamin F defect
- Combined defect in adenosylcobalamin and methylcobalamin synthesis
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
- Lysosomal membrane cobalamin transporter deficiency
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.Methylmalonic aciduria with homocystinuria cbl f is a form of
Last updated: 3/5/2014
- Rosenblaat D and Watkins D. Methylmalonic acidemia with homocystinuria, type cblF. Orphanet. March, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79284. Accessed 3/5/2014.
- Irini Manoli and Charles P Venditti. Methylmalonic Acidemia. GeneReviews. September 28, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1231/. Accessed 6/18/2012.
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