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Paediatric palliative medicine and inherited metabolic joint session

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P Munot, N Nathwani, A Arasu, F Zahir, D Hounsley. Luton and Dunstable Hospital NHS trust, Luton, Bedfordshire, UK

Background: Inherited metabolic disorders (IMD) are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively they account for a substantial use of healthcare resources in district general hospitals.

Aims: To study the clinical presentation, referral, diagnosis and outcome of IMD referred to a busy district general hospital serving an ethnically diverse British population. This study is useful in highlighting the diverse presenting features and the facilities needed in planning services for patients with IMD.

Methods: All children with a confirmed diagnosis of IMD were identified from the laboratory database and details were obtained from case notes. A retrospective review of clinical features, referral, diagnosis, follow-up and outcome was performed.

Results: 62 children (32 girls and 30 boys) were identified. The mean age at presentation was 9.46 months (range 2 days to 10 years) with 26 (42%) presenting in the neonatal period, 9 (14%) in infancy and the remainder in childhood. Of these, 18% were identified from a family history, 14% due to an acute illness and 11% due to hypoglycaemia. Consanguinity was present in 63% and 65% were of Asian origin. The range of diagnoses included disorders of fat metabolism (22.5%), carbohydrate (19.3%), amino acids (8%), mitochondrial (9.6%), lysosomal storage disorders (3.2%), organic acidaemias (4.8%), purine and pyrimidine (2%), vitamins and minerals (22.5%), perioxisomal disorders (1.6%), porphyrias (1.65) and miscellaneous (4.8%). The most common diagnosis was medium-chain acyl-coenzyme A dehydrogenase deficiency. Additional data on referral, developmental progress, follow-up and long-term outcome will be presented at the meeting.

Conclusions: This review highlights that the majority of children with IMD present in the neonatal period. A wide variety of IMD can present in busy district general …

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