Methylmalonic acidemia with homocystinuria, type cblF
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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.
- Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. GeneReviews. January 7, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1231/.
- Genetics Home Reference (GHR) contains information on Methylmalonic acidemia with homocystinuria, type cblF. This website is maintained by the National Library of Medicine.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.