Table 4 Suggested laboratory evaluations for a patient with hypoglycemia and hepatomegaly

From: Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Primary evaluation (if possible, drawn at the time of hypoglycemia)

Blood glucose

Blood lactate

Uric acid

Biotinidase

Hepatic profile including liver function studies

Serum lipid profile

Plasma creatine kinase (CK)

Plasma total and free carnitine

Plasma acylcarnitine profile

Plasma amino acids

Urinalysis

Urine organic acids

Secondary evaluation (when the diagnosis is unclear)

Insulin

Growth hormone

Cortisol

Free fatty acids

β-hydroxybutyrate and acetoacetate

Review results of newborn screening

Back to article page