Methylmalonic aciduria, cblB type

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Disease Overview

Methylmalonic aciduria, cblB type is an inherited condition in which the body is unable to metabolize certain proteins and fats properly. Signs and symptoms generally develop in the first few months of life and may include failure to thrive, lethargy, vomiting, dehydration, hypotonia, developmental delay, seizures, ataxia (problems with muscle control), feeding difficulties, and an enlarged liver (hepatomegaly). Intellectual disability is a long-term consequence. Methylmalonic aciduria, cblB type is caused by changes (mutations) in the MMAB gene and is inherited in an autosomal recessive manner. There is no cure for the condition. Treatments are focused on alleviating some of the associated symptoms and may include a special diet and various medications and/or supplements.[4437][6311]


Synonyms

  • Methylmalonic acidemia cblB type
  • Vitamin B12-responsive methylmalonic aciduria, type cblB
  • Vitamin B12-responsive methylmalonic acidemia type cblB
  • METHYLMALONIC ACIDURIA, cblB TYPE
  • METHYLMALONIC ACIDEMIA, cblB TYPE
  • METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
  • Methylmalonic aciduria cblB type

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National Organization for Rare Disorders