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Asian Pac J Trop Biomed. 2012 Apr;2(4):331-2. doi: 10.1016/S2221-1691(12)60033-1.

Case report on an infant presenting with hypoglycemia, and milky serum.

Author information

  • 1Department of Paediatrics, Kasturba Medical College, Manipal University, Manipal, India-576104.

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.

KEYWORDS:

Glycogen storage disorder type I; Hypertriglyceridemia; Hypoglycemia; Milky serum

PMID:
23569924
PMCID:
PMC3609285
DOI:
10.1016/S2221-1691(12)60033-1
[PubMed - indexed for MEDLINE]
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