Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency
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Abstract
ABSTRACT 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.
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Authors: Julien Neveu, Mathilde Butori, Anne Spraul, Charlotte Hinault-Boyer, Mourad Naïmi
Institutions: Bicêtre Hospital, Hôpital Pasteur, Fondation Lenval