3 Weak Melanie

Melanie, a 13-year-old girl was brought to the outpatient paediatric clinic by her mother with a
grossly enlarged abdomen. Melanie admitted that she had a history of frequent episodes of
abdominal pain and weakness, which were relieved after eating. Physical examination revealed
that Melanie was underweight (23kg) with a firm but enlarged liver, which descended into her
pelvis. The rest of the physical examination did not reveal anything untoward. Laboratory analysis
showed Melanie had low blood glucose, low blood pH, and elevated blood levels of lactate,
triglycerides, uric acid, ketones, and free fatty acids. A liver biopsy revealed a high glycogen
content, the structure of which was normal.