Nutritional management is central to treating many inborn errors of metabolism (IEM). Its aims include normal weight gain, linear growth, head growth and psychomotor development, followed through regular assessment by the metabolic dietitian, the metabolic genetic consultant and the family.
The protocols in this manual guide health care professionals who treat infants, children, adolescents and adults with inherited metabolic disorders. They are written for those less familiar with nutrition support in metabolic disease and are also useful in centres that already have established protocols.
Contents
- Nutritional support for urea cycle disorders
- Nutritional support for propionic acidemia
- Nutritional support for maple syrup urine disease (MSUD)
- Nutritional support for mitochondrial fatty acid oxidation defects
- Phenylketonuria (PKU)
- Classical homocystinuria
- Standard recipes
About the lead author
Prof. Majid Alfadhel MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Deputy Executive Director, King Abdullah International Medical Research Centre
Chairman, Genetics and Precision Medicine Department (GPM)
Director, Medical Genomic Research Lab
King Saud Bin Abdulaziz University for Health Sciences
King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia
Co-authors: Fuad Al Mutairi MD, and Lina Al Ohali, Metabolic Dietitian I.
The full book is free to download as a PDF.