eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0020598|hypoglycemia |
| Sentences | 1 |
| PubMedID- 20301700 | The three recognized phenotypes are hepatic encephalopathy, in which individuals (typically children) present with hypoketotic hypoglycemia and sudden onset of liver failure; adult-onset myopathy, seen in one individual of inuit origin; and acute fatty liver of pregnancy, in which the fetus is homozygous for a pathogenic variant in cpt1a that causes cpt1a deficiency. |
Page: 1