An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia

Abstract Background Marked hypertriglyceridemia in infancy is extremely rare. Patients with severe hypertriglyceridemia in early life may be unmasked by a primary or secondary cause. Case presentation A female infant was born in a good condition with normal Apgar scores. No special clinical symptoms and signs had been found within the first two months of life. Poor oral intake and failure to thrive were two main clinical manifestations when she was referred to our hospital at the age of 3.5 months. The milky serum was the only one characteristic presentation. Laboratory testing showed extremely high level of triglycerides, cholesterol and lactate. Many other laboratory indexes cannot be detected because of severe hyperlipemic samples. Multi-gene panel testing for 249 genes about genetic and metabolic liver disease were performed. Gene analysis revealed a G6PC gene deficiency. The patient was a homozygote for c.248G > A, p.R83H and her parents were both the heterozygotes. The infant had been diagnosed as glycogen storage disease type Ia. Conclusions We report an infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia by genetic testing. The gene panel can be used to confirm the diagnosis and delineate the exact type of glycogen storage disease, which could ultimately really help to reduce unnecessary tests and invasive examinations. Serum lipid should be close monitoring in order to prevent the complications and improve the prognosis.