eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0342727|3-methylglutaconic aciduria |
| Sentences | 3 |
| PubMedID- 23918762 | Infantile mitochondrial hepatopathy is a cardinal feature of megdel syndrome (3-methylglutaconic aciduria type iv with sensorineural deafness, encephalopathy and leigh-like syndrome) caused by novel mutations in serac1. |
| PubMedID- 24741715 | Megdel (3-methylglutaconic aciduria with deafness, encephalopathy and leigh-like) syndrome is characterized in neonates by hypoglycemia and a sepsis-like clinical picture for which no infectious agent can be found. |
| PubMedID- 25650066 | Conclusions: altogether, our study suggests that disruption of clpb causes a novel form of neonatal encephalopathy associated with 3-methylglutaconic aciduria. |
Page: 1