Cornejo Verónica, Concha Miluska, Cabello Juan Francisco, Raimann Erna
Laboratorio de Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago.
Arch Latinoam Nutr. 2005 Dec;55(4):332-5.
Phenylketonuria (PKU) is a genetic disorder caused by a partial or complete mutation of the enzyme phenylalanine hydroxylase (PHA), fact that produces high levels of phenylalanine in blood resulting in mental retardation if not diagnosed during the neonatal period. Treatment consists of a phenylalanine (Phe) restricted diet. Several studies have shown that due to restriction of animal protein, this diet is deficient in fatty acids such as alfalinolenic acid (ALA) and provides high levels of linoleic acid (LA). The objective of this study was to determine the lipid composition of the diet consumed by children with early-diagnosed PKU. Lipid composition of the Phenylalanine restricted diet consumed by 29 children with PKU and in follow-up at INTA, University of Chile, were analyzed. Children were paired by sex and age with a control group. A twenty-four hour dietary recall was performed for 3 consecutive days and total fatty acid intake, including saturated, monounsaturated, polyunsaturated, LA and ALA, were calculated. In the restricted diet of children with PKU, 31.8% of total calories are from fat, 13% of which are LA and 0.2% ALA, showing significant differences as compared to the control group. The ratio of saturated:monounsaturated:polyunsaturated fatty acids was 1:1.7:3.9 and the ratio of LA:ALA was ten-fold higher than the recommended ratio of 115:1. It is concluded that the Phenyalanine restricted diet of Chilean children with PKU is high in LA and low in ALA.
苯丙酮尿症（PKU）是一种由苯丙氨酸羟化酶（PHA）部分或完全突变引起的遗传性疾病，这一事实导致血液中苯丙氨酸水平升高，如果在新生儿期未被诊断出来，会导致智力发育迟缓。治疗方法包括限制苯丙氨酸（Phe）饮食。多项研究表明，由于动物蛋白受限，这种饮食缺乏α-亚麻酸（ALA）等脂肪酸，而亚油酸（LA）含量较高。本研究的目的是确定早期诊断为PKU的儿童所食用饮食的脂质组成。分析了智利大学INTA的29名PKU患儿及其随访期间食用的苯丙氨酸限制饮食的脂质组成。按性别和年龄将儿童与对照组配对。连续3天进行24小时饮食回顾，并计算总脂肪酸摄入量，包括饱和脂肪酸、单不饱和脂肪酸、多不饱和脂肪酸、LA和ALA。在PKU患儿的限制饮食中，总热量的31.8%来自脂肪，其中13%是LA，0.2%是ALA，与对照组相比有显著差异。饱和脂肪酸：单不饱和脂肪酸：多不饱和脂肪酸的比例为1:1.7:3.9，LA:ALA的比例比推荐比例115:1高10倍。得出的结论是，智利PKU患儿的苯丙氨酸限制饮食中LA含量高而ALA含量低。
