Abstract
The treatment of children with inborn errors of metabolism (IEM) is mainly based on restricted dietary intake of protein-containing foods. However, dietary protein restriction may not only reduce amino acid intake, but may be associated with low intake of polyunsaturated fatty acids as well. This review focuses on the consequences of dietary restriction in IEM on the bioavailability of long-chain polyunsaturated fatty acids (LCPUFAs) and on the attempts to ameliorate these consequences. We were able to identify during a literature search 10 observational studies investigating LCPUFA status in patients with IEM and six randomized controlled trials (RCTs) reporting effect of LCPUFA supplementation to the diet of children with IEM. Decreased LCPUFA status, in particular decreased docosahexaenoic acid (DHA) status, has been found in patients suffering from IEM based on the evidence of observational studies. LCPUFA supplementation effectively improves DHA status without detectable adverse reactions. Further research should focus on functional outcomes of LCPUFA supplementation in children with IEM.
Highlights
Inborn errors of metabolism (IEM) represent a highly heterogeneous group of genetic conditions, in which single gene defects are responsible for a block in the metabolic pathway
Despite the early initiation of treatment, patients with IEM usually suffer from long-term neurological complications; mainly brain structural changes and abnormalities of the visual function have been shown in patients who are otherwise well-controlled during childhood, e.g., patients suffering from hyperphenylalaninemia [16]
IEM compared to healthy controls in eight studies, whereas in two studies [19,21], docosahexaenoic acid (DHA) levels did not differ between patients and controls
Summary
Inborn errors of metabolism (IEM) represent a highly heterogeneous group of genetic conditions, in which single gene defects are responsible for a block in the metabolic pathway. Symptoms of acute encephalopathy are characteristic to patients with organic acidemias (e.g., maple syrup urine disease, propionic, isovaleric, and methylmalonic acidemias), urea cycle defects (e.g., ornithine transcarbamylase deficiency, citrullinemia) and some other disorders of amino acid metabolism (e.g., glutaric acidemia type I) [5]. Dietary treatment with strict limitations of specific nutrient intake, together with rapid removal of toxic substrates and/or replacement of the deficient products are the main therapeutic measures securing long-term survival of these patients [6,7]. Dietary protein restriction may lead both to reduced amino acid intake and to low intake of important other nutrients, such as vitamins, trace elements, and polyunsaturated fatty acids as well [8,9]. This review discusses the potential consequences of reduced bioavailability of long-chain polyunsaturated fatty acids (LCPUFAs)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
