Allen J R, Baur L A, Waters D L, Humphries I R, Allen B J, Roberts D C, Gaskin K J
James Fairfax Institute of Paediatric Nutrition, Royal Alexandra Hospital for Children, Camperdown, N.S.W., Australia.
Eur J Clin Nutr. 1996 Mar;50(3):178-86.
To assess body protein and protein deposition in prepubertal children with phenylketonuria (PKU).
Cross-sectional study with nested longitudinal cohort.
A tertiary referral paediatric hospital.
37 PKU patients (3.9-11.0 years) and 27 unselected healthy controls (4.0-11.5 years) of whom 29 PKU patients and 17 controls were followed longitudinally.
All had measurements of height, weight, body fat and total body nitrogen (TBN) by neutron capture analysis; PKU patients and their unaffected siblings (n = 16) also had measurements of four day weighed food record and plasma amino acids by HPLC.
The children with PKU compared with the controls were significantly shorter (height SD score -0.42 +/- 0.89 vs 0.17 +/- 0.94, respectively, P < 0.02) and had a lower TBN (575 +/- 200 vs 710 +/- 215g, respectively, P < 0.02). TBN in the controls was significantly correlated with lean body mass (LBM), weight, height and age (r = 0.97, 0.95, 0.95, 0.88, respectively, P < 0.001). The children with PKU had significantly lower TBN when predicted from LBM, weight and age (93%, 92%, 92% of predicted, respectively), but normal TBN predicted from height (102% of expected). The annual accretion of nitrogen was similar for the PKU and controls (86 +/- 45 and 77 +/- 58 g/y, respectively). There was no difference between the two groups in protein intake or plasma amino acids except for phenylalanine.
The children with PKU had a deficit in height and body protein despite a normal to higher accretion of protein. If the deficit occurs early in life, amino acid supplementation and other nutritional practices used at this time need to be reviewed.
评估青春期前苯丙酮尿症（PKU）患儿的机体蛋白质及蛋白质沉积情况。
嵌套纵向队列的横断面研究。
一家三级转诊儿科医院。
37例PKU患儿（3.9 - 11.0岁）和27例未经挑选的健康对照儿童（4.0 - 11.5岁），其中29例PKU患儿和17例对照儿童接受纵向随访。
所有人均通过中子俘获分析法测量身高、体重、体脂和全身氮（TBN）；PKU患儿及其未患病的同胞（n = 16）还通过高效液相色谱法测量了4天的称重食物记录和血浆氨基酸。
与对照组相比，PKU患儿明显更矮（身高标准差分数分别为 -0.42 ± 0.89和0.17 ± 0.94，P < 0.02），TBN更低（分别为575 ± 200 g和710 ± 215 g，P < 0.02）。对照组的TBN与去脂体重（LBM）、体重、身高和年龄显著相关（r分别为0.97、0.95、0.95和0.88，P < 0.001）。根据LBM、体重和年龄预测，PKU患儿的TBN显著更低（分别为预测值的93%、92%、92%），但根据身高预测的TBN正常（为预期值的102%）。PKU患儿和对照组的氮年增加量相似（分别为86 ± 45 g/年和77 ± 58 g/年）。除苯丙氨酸外，两组在蛋白质摄入量或血浆氨基酸方面无差异。
尽管蛋白质增加量正常或更高，但PKU患儿存在身高和机体蛋白质不足的情况。如果这种不足在生命早期出现，此时使用的氨基酸补充及其他营养措施需要重新评估。
