Article
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
Journal of inherited metabolic disease - 1 Jul 2021
Arai-Ichinoi Natsuko, Kikuchi Atsuo, Wada Yoichi, Sakamoto Osamu, Kure Shigeo
Abstract excerpt
Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass screening or symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency, some patients in childhood may develop hepatopathy or dyslipidemia as failure to thrive and dyslipidemia caused by citrin deficiency, and some adults are diagnosed after...
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