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Inherited Metabolic Disorders
Author(s) -
Boyer Suzanne W.,
Barclay Lisa J.,
Burrage Lindsay C.
Publication year - 2015
Publication title -
nutrition in clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.725
H-Index - 71
eISSN - 1941-2452
pISSN - 0884-5336
DOI - 10.1177/0884533615586201
Subject(s) - medicine , micronutrient , dietary therapy , maple syrup urine disease , limiting , intensive care medicine , multidisciplinary team , pediatrics , newborn screening , inborn error of metabolism , population , medical nutrition therapy , life span , physiology , gerontology , environmental health , pathology , mechanical engineering , biochemistry , chemistry , leucine , nursing , amino acid , engineering
The introduction of newborn screening and the development of new therapies have led to an expanding population of patients with inherited metabolic disorders, and these patients are now entering adulthood. Dietary therapy is the mainstay of treatment for many of these disorders, and thus, trained metabolic dietitians are critical members of the multidisciplinary team required for management of such patients. The main goals of dietary therapy in inborn errors of metabolism are the maintenance of normal growth and development while limiting offending metabolites and providing deficient products. Typically, the offending metabolite is either significantly reduced or removed completely from the diet and then reintroduced in small quantities until blood levels are within the normal range. Such treatment is required in infancy, childhood, and adulthood and requires careful monitoring of micronutrient and macronutrient intake throughout the life span. The goal of this review is to highlight the basic principles of chronic nutrition management of the inborn errors of protein, carbohydrate, and fat metabolism.