Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids properly. Signs and symptoms of this condition usually appear in early infancy and include vomiting, dehydration, hypotonia, lethargy, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Methylmalonic acidemia is caused by mutations in the MMAA, MMAB, and MUT genes; it has an autosomal recessive pattern of inheritance.
Names and Codes
| Condition:1 | Methylmalonic acidemia |
|---|---|
| Abbreviation:1 | CBL B |
| Category:2 | Core |
| SNOMED CT Code:3 |
82245003—Cobalamin B disease UMLS CUI:4C0342722 |
| ICD-9-CM Code:5 |
270.3—Disturbances of branched-chain amino-acid metabolism |
| ICD-10-CM Code:6 |
E71.120—Methylmalonic acidemia |
Affected Protein Names and Codes
| Enzyme Commission Number:7 |
5.4.99.2 |
|---|---|
| UniProt Number:8 |
P22033 |
Analytes or Measurements
More Information
Record created: December 19, 2008
Record last updated: April 20, 2011
