Güttler F, Hansen G
Scand J Clin Lab Invest. 1977 Dec;37(8):717-21. doi: 10.3109/00365517709101855.
Twenty-seven heterozygotes for phenylketonuria (PKU) and sixteen normal homozygotes were loaded with an amount of L-phenylalanine per body mass = 0.6 mmol/kg. Serum tyrosine concentration increased significantly within 15 min after the intake and the increase was rectilinear within the first 30 min. The initial rate of increase in serum tyrosine in heterozygotes was 0.47 mumol/l/min (range 0.20-0.98 mumol/l/min) and in normal homozygotes 1.2 mumol/l/min (range 0.80-1.9 mumol/l/min). The median serum tyrosine concentration increased within the first hour after an oral phenylalanine load (0.6 mmol/kg) of twelve infants with persistent hyperphenylalaninaemia (HPA), whereas serum tyrosine showed a decrease in forty infants with classical PKU. In ninetten infants with mild PKU serum tyrosine remained unchanged within the first hour after the load and then declined.
27名苯丙酮尿症（PKU）杂合子和16名正常纯合子按每千克体重0.6毫摩尔的量摄入L-苯丙氨酸。摄入后15分钟内血清酪氨酸浓度显著升高，且在前30分钟内呈直线上升。杂合子血清酪氨酸的初始升高速率为0.47微摩尔/升/分钟（范围为0.20 - 0.98微摩尔/升/分钟），正常纯合子为1.2微摩尔/升/分钟（范围为0.80 - 1.9微摩尔/升/分钟）。12名持续性高苯丙氨酸血症（HPA）婴儿口服苯丙氨酸负荷量（0.6毫摩尔/千克）后，血清酪氨酸中位数在第一小时内升高，而40名典型PKU婴儿的血清酪氨酸则下降。19名轻度PKU婴儿在负荷后第一小时内血清酪氨酸保持不变，随后下降。
