Ontology highlight
ABSTRACT:
SUBMITTER: Li JQ
PROVIDER: S-EPMC6020200 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Li Jia-Qi JQ Xie Xin-Bao XB Feng Jia-Yan JY Chen Lian L Abuduxikuer Kuerbanjiang K Lu Yi Y Li Yu-Chuan YC Wang Jian-She JS Wang Jian-She JS
BMC gastroenterology 20180625 1
<h4>Background</h4>Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.<h4>Case presentation</h4>We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months of age. A novel mutation c.523C>T, p. (Q175*) was identified in GPD1. The patient was a homozygote and her parents ...[more]