Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia

Hypoglycemia is one of the most common metabolic emergencies in childhood. If not promptly recognized and treated, it can cause irreversible neurological injury. In newborns, infants, and children, inherited metabolic diseases (IMDs) account for a large proportion of persistent or recurrent hypoglycemia, though other genetic and endocrine disorders can also be underlying causes. Timely etiological diagnosis is critical, as many causes are treatable and require specific management to prevent recurrence. We systematically reviewed and updated the list of inherited causes of hypoglycemia and identified 340 disorders, displaying characteristic clinical and biochemical “footprints” that can guide the diagnostic process. Despite the high burden and potential for targeted therapy, underdiagnosis and delayed management remain common. This article represents the nineteenth in a series aimed at creating and maintaining a comprehensive catalogue of clinical and biochemical differential diagnoses for IMDs according to system or symptom involvement.