Key result
GPD1 deficiency causes transient infantile hypertriglyceridemia with hepatomegaly and steatosis, primarily via the c.361-1G>C variant.
Why the study?
HTGTI caused by GPD1 deficiency is characterized by hepatomegaly, hypertriglyceridemia, transaminase elevation, hepatic steatosis, and fibrosis, but clinical details remain limited.
GPD1 deficiency causes transient infantile hypertriglyceridemia, presenting with hepatomegaly and hepatic steatosis, most commonly due to the c.361-1G>C variant.
Recognition of GPD1 deficiency may prompt targeted testing in affected infants; leaves open natural history and management needs.
HTGTI caused by GPD1 deficiency is mainly manifested with hepatomegaly, hypertriglyceridemia, transaminase elevation as well as hepatic steatosis and fibrosis. The most common variation of GPD1 is c.361-1G>C.
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A 2020 study studied this question. Transient infantile hypertriglyceridemia caused by GPD1 deficiency manifests with hepatomegaly, elevated transaminases, and hepatic steatosis, most commonly due to the c.361-1G>C variant.
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