title: Case report on an infant presenting with hypoglycemia, and milky serum.
abstract: A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3 168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis.
authors.affiliation: Department of Paediatrics, Kasturba Medical College, Manipal University, Manipal, India-576104.
authors.forename: Yogesh Kumar
authors.initials: YK
authors.lastname: Gupta
authors.forename: Anushre
authors.initials: A
authors.lastname: Prasad
authors.forename: Pushpa
authors.initials: P
authors.lastname: Kini
authors.forename: Prashant
authors.initials: P
authors.lastname: Naik
authors.forename: Deepti
authors.initials: D
authors.lastname: Choprra
authors.forename: Krishnananda
authors.initials: K
authors.lastname: Prabhu
mesh_terms: D017809:Fatal Outcome; D006529:Hepatomegaly; D006801:Humans; D015228:Hypertriglyceridemia; D007003:Hypoglycemia; D007223:Infant; D008297:Male; D012640:Seizures
keywords: Glycogen storage disorder type I; Hypertriglyceridemia; Hypoglycemia; Milky serum