DOI: 10.1002/ccr3.73358 ISSN: 2050-0904
Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency
Julien Neveu, Mathilde Butori, Anne Spraul, Charlotte Hinault‐Boyer, Mourad NaïmiABSTRACT
In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and rapid clinical improvement.