Conditions / Genetic
mitochondrial DNA depletion syndrome 16
info · Genetic
A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3.
Signs and symptoms
- Elevated circulating aspartate aminotransferase concentration
- Cholestasis
- Hypoplasia of the corpus callosum
- Anteverted nares
- Hyperkalemia
- Increased total bilirubin
- Increased circulating lactate concentration
- Hepatomegaly
- Hypoalbuminemia
- Abdominal distention
Also known as: mitochondrial DNA depletion syndrome 16 (hepatic type)