eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | 3-methylglutaconic aciduria |
| Comorbidity | C0155550|neural deafness |
| Sentences | 2 |
| 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- 21455844 | Association of 3-methylglutaconic aciduria (3-mgca) with sensorineural deafness and leigh-like encephalopathy (megdel) was described as a very rare mitochondrial disorder without a known molecular background. |
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