Koletzko B, Sauerwald T, Demmelmair H, Herzog M, von Schenck U, Böhles H, Wendel U, Seidel J
Department of Paediatrics, University of Munich, Munich, Germany.
J Inherit Metab Dis. 2007 Jun;30(3):326-32. doi: 10.1007/s10545-007-0491-4. Epub 2007 Apr 12.
Pre- and postnatal tissue accretion of long-chain polyunsaturated fatty acids (LCPUFA) has been related to visual and cognitive development in healthy children in several studies. Children with phenylketonuria (PKU) consume diets with very low contents of preformed LCPUFA. We studied prospectively the LCPUFA status in infants with PKU without or with LCPUFA supplementation during the first year of life.
Infants with PKU were enrolled at diagnosis (<4 weeks of age) and randomized double blind to phenylalanine-free amino acid supplements without LCPUFA (n = 11) or with both arachidonic (AA, 0.46 wt%) and docosahexaenoic acids (DHA, 0.27 wt%) (n = 10). At enrolment and again at 1, 2, 3, 4, 6, 9 and 12 months, plasma phospholipid fatty acids were measured and dietary intakes were calculated from dietary protocols.
Unsupplemented patients showed a marked LCPUFA depletion to levels clearly below those observed in healthy breast-fed infants. In contrast, supplemented infants had stable and higher LCPUFA levels than unsupplemented infants, reaching significant differences for AA values at 3, 4 and 6 months, and for DHA values at 1, 3, 4, 6, 9 and 12 months. Plasma phospholipid levels correlated closely with estimated dietary intakes of preformed LCPUFA.
Low LCPUFA intakes with PKU diets induce marked depletion of AA and particularly of DHA in the first year of life. Thus endogenous synthesis of LCPUFA from precursors supplied by diet seems unable to compensate for low LCPUFA intakes. LCPUFA supplementation of PKU diets during the first year of life effectively enhances LCPUFA status to levels comparable to those of healthy breast-fed infants.
多项研究表明，健康儿童长链多不饱和脂肪酸（LCPUFA）的产前和产后组织蓄积与视觉和认知发育有关。苯丙酮尿症（PKU）患儿食用的饮食中预先形成的LCPUFA含量极低。我们前瞻性地研究了1岁以内未补充或补充了LCPUFA的PKU婴儿的LCPUFA状况。
PKU婴儿在诊断时（<4周龄）入组，并随机双盲分为不含LCPUFA的无苯丙氨酸氨基酸补充剂组（n = 11）或同时含有花生四烯酸（AA，0.46 wt%）和二十二碳六烯酸（DHA，0.27 wt%）的组（n = 10）。在入组时以及1、2、3、4、6、9和12个月时，测量血浆磷脂脂肪酸，并根据饮食方案计算饮食摄入量。
未补充的患者显示LCPUFA明显缺乏，水平明显低于健康母乳喂养婴儿。相比之下，补充LCPUFA的婴儿比未补充的婴儿具有更稳定且更高的LCPUFA水平，在3、4和6个月时AA值以及在1、3、4、6、9和12个月时DHA值存在显著差异。血浆磷脂水平与预先形成的LCPUFA的估计饮食摄入量密切相关。
PKU饮食中LCPUFA摄入量低会导致1岁以内婴儿AA尤其是DHA明显缺乏。因此，由饮食提供的前体物质内源性合成LCPUFA似乎无法弥补LCPUFA低摄入量。在1岁以内对PKU饮食补充LCPUFA可有效提高LCPUFA状况，使其达到与健康母乳喂养婴儿相当的水平。
