loading...| Preferred Name |
Methylmalonic acidemia |
| Synonyms |
Methylmalonic Aciduria |
| ID |
http://purl.bioontology.org/ontology/MESH/C537358 |
| altLabel |
Methylmalonic Aciduria Acidemia, methylmalonic Isolated Methylmalonic Acidemia |
| cui |
C0268583 C1855119 |
| HM |
D000592 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
356 |
| MMR |
20160705 |
| notation |
C537358 |
| prefLabel |
Methylmalonic acidemia |
| SC |
3 |
| Scope Statement |
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. |
| TERMUI |
T742320 T842001 T842002 T742318 |
| TH |
ORD (2010) GHR (2014) |
| tui |
T047 |