Advocacy Brief: understanding the role of nutrition for individuals living with genetic disorders
Authors: Al-Jawaldeh Ayoub , Taktouk Mandy , Al Dhaheri Ayesha , Alkazemi Dalal Usamah Zaid , Ibrahim Eman , Hamad Hani , Elati Jalila , Peña-Rosas Juan Pablo , Ismail Leila Cheikh , Benajiba Nada 
Published: November 2024

Nutritionally-managed genetic disorders encompass a wide range of conditions in which dietaryinterventions play a critical role in managing or mitigating the effects of genetic abnormalities. Thesedisorders range from inborn errors of metabolism, such as glutaric acidaemia, to inherited metabolicdiseases and congenital disorders of glycosylation. They often involve autosomal genes and are typically inherited, being passed from one generation to the next. The acute symptoms of genetic disorders, such as intoxication, closely resemble those of other conditions like infections, birth traumas, respiratory issues, cardiac disorders, and endocrine problems, often leading to frequent misdiagnosis and severe outcomes, including death. Key organs affected include the liver, brain, heart, muscles and kidneys, which play critical roles in metabolism and energy regulation. Clinical symptoms, which often relate to the type and toxicity of accumulated metabolites or the absence of essential products, include poor feeding reflexes, vomiting, dehydration, abnormal muscle tone, seizures, neurological impairment, coma and even mortality.Proper management of genetic disorders involves adequate newborn screening, nutritional assessment, nutritional diagnosis, nutritional intervention and consequently nutritional monitoring and evaluation. This guide sheds light on the different categories of genetic disorders (urea cycle disorders (UCDs), organic acidaemias, carbohydrate disorders, amino-acid disorders and fatty acid-oxidation disorders), as well as their main characteristics, biochemical features and clinical symptoms, complications and medical nutrition therapy and management guidelines. The medical nutrition therapy of genetic disorders aims to address the deficiency or inactivity of enzymes by (1) limiting the amount of available substrate; (2) providing more of the end product; (3) supplementing additional enzymatic cofactors; (4) promoting the elimination of toxic metabolites; (5) relying on a combination of these approaches; (6) maintaining appropriate blood levels of pertinent indicators; (7) providing adequate energy and nutrients; (8) ensuring proper growth and development; and (9) treating infections and managing seizures if needed.This document is intended to serve as a resource for policy makers, physicians, healthcare practitioners, parents, family members and caregivers. It also emphasizes the need to have a comprehensive referral system and multidisciplinary care teams to better enhance the management of genetic disorders in the Eastern Mediterranean region. This is not a World Health Organization (WHO) guideline but an updated review of various organizations guidelines in various countries as a desk review of the topic. A preliminary advocacy brief was prepared at the WHO Regional Office andcirculated to the various experts from different countries for their feedback and consensus on thecontents.