Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

ABSTRACT:

Background & aims

Next generation sequencing approaches have tremendously improved the diagnosis of rare genetic diseases. It may however be faced with difficult clinical interpretation of variants. Inherited enzymatic diseases provide an invaluable possibility to evaluate the function of the defective enzyme in human cell biology. This is the case for respiratory complex III, which has 11 structural subunits and requires several assembly factors. An important role of complex III in liver function is suggested by its frequent impairment in human cases of genetic complex III defects.

Methods

We report the case of a child with complex III defect and acute liver dysfunction with lactic acidosis, hypoglycemia, and hyperammonemia. Mitochondrial activities were assessed in liver a

SUBMITTER: Kremer LS 

PROVIDER: S-EPMC5640785 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature