What are the referral criteria for a specialist metabolic clinic in cases of suspected inborn errors of metabolism?

Referral to a specialist metabolic clinic for suspected inborn errors of metabolism (IEM) should be considered when clinical features suggest a metabolic disorder that cannot be managed adequately in primary care or general paediatric settings. Key referral criteria include unexplained developmental delay, regression, or neurological symptoms; failure to thrive; recurrent vomiting; metabolic acidosis or alkalosis; unexplained hypoglycaemia; unusual odours; and family history suggestive of inherited metabolic conditions. Additionally, biochemical abnormalities such as abnormal plasma amino acids, organic acids, or acylcarnitine profiles, or evidence of multi-organ involvement, warrant specialist assessment. Early referral is critical for timely diagnosis and management to prevent irreversible damage (Velázquez et al., 2000).

In the UK context, while specific NICE guidelines on IEM referral criteria are limited, the approach aligns with the principle of referring patients with complex metabolic or genetic conditions to specialist centres equipped with multidisciplinary teams. These centres provide comprehensive diagnostic evaluation, including genetic testing and metabolic investigations, and coordinate long-term management. Referral is particularly indicated when there is suspicion of a genetic metabolic disorder based on clinical presentation or family history, or when initial investigations in primary care or general paediatrics are inconclusive but clinical suspicion remains high ¹.

Furthermore, children and young people presenting with overweight or obesity and possible genetic or metabolic causes should be assessed for comorbidities and considered for referral to specialist services if complex needs or significant comorbidities are present, which may include metabolic clinics ².

In summary, referral criteria for specialist metabolic clinics in suspected IEM cases include:

• Clinical signs suggestive of metabolic disease (neurological symptoms, failure to thrive, unexplained metabolic disturbances)
• Abnormal biochemical or metabolic screening results
• Family history of metabolic or genetic disorders
• Complex presentations requiring multidisciplinary assessment

These criteria ensure timely specialist input for diagnosis and management, consistent with UK practice and supported by metabolic disease literature (Velázquez et al., 2000) ¹,².