Abstract / Summary
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.
Topics
SLC25A13case reportcitrin deficiencyhypoglycemiamalate–aspartate shuttleneonatal cholestasis