loading...| Preferred Name |
Adult-onset citrullinemia type 2 |
| Synonyms |
Citrin deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C538053 |
| altLabel |
Citrin deficiency Citrullinemia, Type II, Adult-Onset |
| cui |
C1863844 |
| HM |
D020159 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100625 |
| MeSH Frequency |
23 |
| MMR |
20151109 |
| notation |
C538053 |
| prefLabel |
Adult-onset citrullinemia type 2 |
| SC |
3 |
| Scope Statement |
An autosomal recessive metabolic disorder characterized by the sudden onset of various neuropsychologic symptoms, convulsions, and coma due to HYPERAMMONEMIA. In some cases, rapid progression can lead to BRAIN EDEMA and death if liver transplantation is not possible. Some patients may present with nonalcoholic LIVER STEATOSIS; LIVER CIRRHOSIS; or HEPATOCELLULAR CARCINOMA. Patients also tend to have an aversion to carbohydrates, and favor proteins in their diet. Mutations in the SLC25A13 gene have been identified. OMIM: 603471 |
| TERMUI |
T000887306 T831792 T744604 |
| TH |
ORD (2010) OMIM (2016) OMIM (2013) |
| tui |
T047 |