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关于高苯丙氨酸血症新生儿的治疗指征

On indications for treatment of the hyperphenylalaninemic neonate.

作者信息

Güttler F, Wamberg E

出版信息

Acta Paediatr Scand. 1977 May;66(3):339-44. doi: 10.1111/j.1651-2227.1977.tb07904.x.

DOI:10.1111/j.1651-2227.1977.tb07904.x
PMID:868515
Abstract

Of 488 006 neonates tested by Guthrie screening 58 showed values above 2.5 mg/100 ml. Thirty-two showed values between 2.5 mg/100 ml and 15 mg/100 ml. Eighteen of these infants appeared to have phenylketonuria (PKU) and fourteen to have persistent hyperphenylalaninemia (HPA). Neither the initial Guthrie test-value nor the confirmatory test were able to differentiate between these two conditions. Consequently a phenylalanine restricted diet is started in any child with serumphenylalanine values exceeding 10 mh/100 ml (605 micronmol/l). The data show that the course of the dietary tolerance of phenylalanine and a 24-hour phenylalanine load test will differentiate infants with PKU from those with HPA.

摘要

在通过古思里筛查测试的488006名新生儿中,有58名的数值高于2.5毫克/100毫升。32名的数值在2.5毫克/100毫升至15毫克/100毫升之间。这些婴儿中有18名似乎患有苯丙酮尿症(PKU),14名患有持续性高苯丙氨酸血症(HPA)。最初的古思里测试值和确诊测试都无法区分这两种情况。因此,对于任何血清苯丙氨酸值超过10毫克/100毫升(605微摩尔/升)的儿童,都开始采用限制苯丙氨酸饮食。数据表明,苯丙氨酸饮食耐受性的过程和24小时苯丙氨酸负荷试验将区分患有PKU的婴儿和患有HPA的婴儿。

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引用本文的文献

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Phenylketonuria: Current Treatments and Future Developments.苯丙酮尿症:现有治疗方法与未来发展。
Drugs. 2019 Apr;79(5):495-500. doi: 10.1007/s40265-019-01079-z.
2
Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.
J Inherit Metab Dis. 1982;5(1):29-35. doi: 10.1007/BF01799751.
3
Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.联合四氢生物蝶呤-苯丙氨酸负荷试验在检测部分缺陷性生物蝶呤合成中的应用
Eur J Pediatr. 1984 Jun;142(2):126-9. doi: 10.1007/BF00445592.