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methylmalonic aciduria and homocystinuria type cblD

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Disease Overview

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

Synonyms

  • MAHCD
  • Mehtylmalonic acidemia with homocystinuria cbI d
  • cblD - cobalamin locus d
  • cblD defect
  • cblD methylmalonic acidemia and homocystinuria
  • cobalamin D defect
  • cobalamin D deficiency
  • cobalamin d disease
  • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
  • homocystinuria, cblD type, variant 1
  • homocystinuria, cblD type, variant 1, included
  • m0e.321 cobalamin locus d variant
  • methylmalonic acidemia and homocystinuria, cblD type
  • methylmalonic acidemia with homocystinuria type cblD
  • methylmalonic acidemia with homocystinuria, type cblD
  • methylmalonic acidemia, Cblh type
  • methylmalonic acidemia, Cblh type, formerly
  • methylmalonic aciduria and homocystinuria type cblD
  • methylmalonic aciduria and homocystinuria, cblD type
  • methylmalonic aciduria with homocystinuria, type cblD
  • methylmalonic aciduria, Cblh type
  • methylmalonic aciduria, Cblh type, formerly
  • methylmalonic aciduria, cblD type, variant 2
  • methylmalonic aciduria, cblD type, variant 2, included
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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