The hepatic glycogen storage diseases--problems beyond childhood

Area of Science:

• Biochemistry
• Pediatric Endocrinology
• Metabolic Disorders

Background:

• Continuous nocturnal enteral glucose feeds and uncooked cornstarch have improved outcomes for hepatic glycogen storage diseases (GSD).
• Patients are surviving into adulthood with better health but still experience medical complications.
• This review focuses on long-term multisystem complications in GSD I and III.

Purpose of the Study:

• To review bone mineralization, renal function, hepatic tumors, and vascular endothelial function in GSD I.
• To examine cardiac function in GSD III.
• To emphasize the multisystemic nature of GSD and the need for long-term follow-up.

Main Methods:

• Review of existing literature and patient data.
• Analysis of bone mineralization, renal function, hepatic status, vascular endothelial function, and cardiac function in GSD patients.
• Morphological assessment of ovaries in female patients.

Main Results:

• All females over 5 with GSD I, III, VI, and IX had polycystic ovaries.
• Adult GSD I patients showed poor bone mineralization and renal dysfunction; over half had hepatic lesions but preserved vascular endothelial function.
• GSD III patients had focal hepatic lesions and left ventricular hypertrophy, though cardiorespiratory function remained normal.

Conclusions:

• Glycogen storage diseases affect multiple organ systems, necessitating comprehensive lifelong monitoring.
• Long-term complications include bone, renal, hepatic, and cardiac issues.
• Early identification and management of these multisystem complications are crucial for improving patient prognosis.