Case history
Case history #1
A 5-month-old female infant is brought to the emergency department with irritability and rapid breathing. The history reveals frequent episodes of fussiness when the feeding interval is extended beyond 3 to 4 hours. She has never slept through the night. During her recent illness feeding has been limited. On examination she has clear rhinorrhoea, pharyngeal erythema, tachypnoea, and clear breath sounds. The abdomen is protuberant, and liver edge is palpable 10 cm below the costal margin. Laboratory studies show plasma glucose 1.9 mmol/L (35 mg/dL), anion gap acidosis, hyperlacticacidaemia, hyperuricaemia, and hypertriglyceridaemia, and a CXR shows mild hyperinflation.
Case history #2
A 25‐year‐old woman presents at the accident and emergency department with fever and acute right upper quadrant abdominal pain. Laboratory tests detect hypoglycaemia (glucose 2.5 mmol/L), hyperlactataemia (lactate 9.1 mmol/L), and hyperlipidaemia (triglycerides 10.6 mmol/L, cholesterol 6.1 mmol/L). Urinary ketones are negative. She is treated with an intravenous bolus of glucose, subsequent maintenance infusion of sodium chloride and glucose, and antibiotics for suspected sepsis with an abdominal focus. Symptoms recovered quickly, but serum glucose concentrations remain relatively low. The medical history reveals symptoms and signs of fasting intolerance, hepatomegaly, multiple liver adenomas, faltering growth, and delayed puberty.
Other presentations
Presenting clinical symptoms of GSD I vary according to the patient’s age.
Attenuated fasting intolerance is increasingly recognised in a subset of patients. Although symptomatic hypoglycaemia may appear soon after birth, most patients are initially asymptomatic if they receive frequent feedings that contain sufficient glucose to prevent hypoglycaemia. Lactate may serve as an alternative fuel for the brain, which partially explains why symptoms and signs of neuroglycopenia are difficult to recognise. Other presenting features may include hyperpnoea from lactic acidosis.[1]
GSD I is occasionally diagnosed when hepatomegaly and a protuberant abdomen are discovered during a routine physical examination.[1] Untreated children may have a cushingoid appearance, faltering growth, and delayed motor development. Social and cognitive development can be affected if the infant suffers cerebral damage from recurrent hypoglycaemic seizures.
Attenuated phenotypes have been described, presenting during adulthood with liver adenomas, hepatocellular carcinoma, gout, or acute pancreatitis.[2][3]
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