What are the referral criteria for a patient with suspected glycogen storage disorder to a specialist metabolic clinic?

Referral criteria for suspected glycogen storage disorder (GSD) to a specialist metabolic clinic:

• Refer any patient with clinical features suggestive of a glycogen storage disorder, such as unexplained hypoglycaemia, hepatomegaly, muscle weakness, or exercise intolerance, to a specialist metabolic clinic for further assessment and diagnosis.
• Urgent referral is indicated if the patient presents with severe symptoms such as recurrent hypoglycaemic episodes, lactic acidosis, or other metabolic crises that require immediate specialist input.
• Referral should be made to a multidisciplinary specialist metabolic team with expertise in inherited metabolic diseases, including physicians, metabolic specialists, dietitians, and genetic counsellors, to ensure comprehensive evaluation and management.
• Initial assessment in primary care should include detailed family history, clinical examination, and basic biochemical tests, but definitive diagnosis and management planning require specialist metabolic services.

These criteria align with the general principles of referring patients with suspected inherited metabolic disorders to specialist centres that provide multidisciplinary care and have the capacity to manage complex metabolic conditions.

Note: Although the provided UK guidelines do not explicitly list referral criteria for glycogen storage disorders, the approach follows the standard practice for inherited metabolic diseases as outlined in UK specialist referral frameworks and the description of specialist centres in familial hypercholesterolaemia guidance, which emphasises multidisciplinary teams and specialist expertise for rare metabolic conditions ¹.