• Jun Wang, Fang Sun, Pengfei Xu, Yufeng Zhang, Xinrong Sun, and Huiling Deng.
• Second Department of Infectious Diseases.
• Medicine (Baltimore). 2021 Apr 30; 100 (17): e25697e25697.

RationaleTransient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive inherited disease caused by inactivating mutations in the glycerol-3-phosphate dehydrogenase 1 gene. To date, only a few patients have been reported worldwide. The symptoms of the affected individuals present a certain degree of transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis in early infancy. However, the clinical characteristics and pathogenesis of this disease are remain unclear.Patient ConcernsA one month and twenty-five days old girl was admitted to hospital because of persisted jaundice and hepatomegaly for fifty days.DiagnoseThe girl was diagnosed with HTGTI coincident with a noval mutation in glycerol-3-phosphate dehydrogenase 1.InterventionShe was advised to take low-fat diet and supplement of medium-chain fatty acids.OutcomesHer jaundice was gradually normal at the age of 4 months without any treatment, and hypertriglyceridemia were normal at the age of 13 months, but still had elevated transaminases and hepatic steatosis.LessonsJaundice may be a novel phenotype in HTGTI. The report contributes to the expansion of HTGTI's gene mutation spectrum and its clinical manifestations.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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