Inherited metabolic disorders

Résumé fourni par la source

Inherited metabolic disorders (IMDs) are a rare group of genetic diseases where a single gene mutation affects the production or degradation of protein, carbohydrate or fat. Dietary intervention in many IMDs is an essential aspect of treatment and may be the sole treatment or form part of a combined therapeutic approach. Most of the implementation of dietetic treatment will occur in the outpatient setting under a specialist multidisciplinary IMD team via face‐to‐face clinics, and a variety of telecommunications. Ongoing evaluation of nutritional status and effectiveness of dietary intervention is essential. This chapter outlines the dietetic treatment for adults living with the most common IMDs and practical strategies to promote a successful outcome. Adult Refsum disease is caused by a defect in the alpha oxidation of branched‐chain fatty acids due to a mutation in the enzymes phytanoyl‐CoA hydroxylase and peroxin 7.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.