Citrin deficiency mimicking mitochondrial depletion syndrome.

Sarah Catharina GrünertA SchumannP FreisingerS Rosenbaum-FabianM SchmidtsA J MuellerS Beck-WödlT B HaackH SchneiderH FuchsU TeufelG GramerL HannibalU Spiekerkoetter

Published in: BMC pediatrics (2020)

As CD is a well-treatable disorder it should be ruled out early in the differential diagnosis of neonatal cholestasis. Due to the combination of hepatopathy, lactic acidosis and recurrent hypoglycemia the clinical presentation of CD may resemble hepatic mitochondrial depletion syndrome.

Keyphrases

oxidative stress
case report
type diabetes
nk cells
metabolic syndrome
drug induced
replacement therapy
insulin resistance
weight loss