MeSH Browser

MeSH Supplementary: Methylmalonic acidemia
Unique ID: C537358
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537358
Entry Term(s): Acidemia, methylmalonic; Isolated Methylmalonic Acidemia; Methylmalonic Aciduria
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors
Frequency: 356
Note: An inherited autosomal recessive disorder characterized by abnormalities in protein and lipid metabolism. From an early age, patients present with various symptoms that may include VOMITING; DEHYDRATION; HYPOTONIA; DEVELOPMENTAL DELAYS; HEPATOMEGALY; LETHARGY, and CHRONIC KIDNEY DISEASE. Germline mutations in the MUT (OMIM: 609058), MMAA (OMIM: 251100), MMAB (OMIM: 251110) , MMADHC (OMIM: 277410), and MCEE (OMIM: 251120) genes have been identified. Acidemia means presence in the blood, Aciduria means presence in the urine.
Date of Entry: 2010/08/25
Revision Date: 2016/07/05

Methylmalonic acidemia MeSH Supplementary Concept Data 2024