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Diseases

Genetic and Rare Diseases Information Center (GARD)

Methylmalonic acidemia with homocystinuria, type cblF


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
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Overview

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.[1][2]

Last updated: 3/5/2014

References

  1. 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.
  2. 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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In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.