要約

• A group of diverse inherited disorders that arise from deficiency of enzymes required for the breakdown of products of intermediary metabolism.
• Diagnosis depends on a high index of suspicion, and is easily made by biochemical test or mutational analysis. Tissue biopsy is rarely required to make the diagnosis.
• Many present in early childhood with hepatosplenomegaly, neurodevelopmental delay, cardiorespiratory disease, joint contractures, and failure to thrive. Others present later in childhood with pain, organ enlargement, skin rash, sensory organ damage, musculoskeletal abnormalities, muscle weakness, and neurodevelopmental delay.
• Early referral to a consultant centre is strongly advised so that patients and families may be assessed by a multidisciplinary team familiar with the disease.
• Significant advances in treatment have occurred in recent years such that the outlook for patients has substantially changed. Specific treatments limited to certain subtypes include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation.