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

Abstract excerpt

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...

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• Arginine
• Diagnosis, Differential
• Glucose-6-Phosphatase
• Glycogen Storage Disease Type I
• Histidine