Abstract
Before introducing a more comprehensive screen such as plasma chromatography, with its potential to detect 20 amino-acid disorders—an advantage over screening methods which detect only phenylketonuria—the greatly increased problems of organization and the effect on the community, midwives, paediatric services, and laboratory should be considered. The three years' experience in Birmingham showed a three-fold increase in cases detected and suggests criteria for further investigation and treatment.
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- Anderson J. A., Fisch R., Miller E., Doeden D. Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity. J Pediatr. 1966 Mar;68(3):351–360. doi: 10.1016/s0022-3476(66)80237-8. [DOI] [PubMed] [Google Scholar]
- Avery M. E., Clow C. L., Menkes J. H., Ramos A., Scriver C. R., Stern L., Wasserman B. P. Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics. 1967 Mar;39(3):378–384. [PubMed] [Google Scholar]
- BICKEL H., GERRARD J., HICKMANS E. M. Influence of phenylalanine intake on phenylketonuria. Lancet. 1953 Oct 17;265(6790):812–813. doi: 10.1016/s0140-6736(53)90473-5. [DOI] [PubMed] [Google Scholar]
- Bloxam H. R., Day M. G., Gibbs N. K., Woolf L. I. An inborn defect in the metabolism of tyrosine in infants on a normal diet. Biochem J. 1960 Nov;77(2):320–326. doi: 10.1042/bj0770320. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Clow C., Scriver C. R., Davies E. Results of mass screening for hyperaminoacidemias in the newborn infant. Am J Dis Child. 1969 Jan;117(1):48–53. doi: 10.1001/archpedi.1969.02100030050005. [DOI] [PubMed] [Google Scholar]
- EFRON M. L., YOUNG D., MOSER H. W., MACCREADY R. A. A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. N Engl J Med. 1964 Jun 25;270:1378–1383. doi: 10.1056/NEJM196406252702602. [DOI] [PubMed] [Google Scholar]
- GERRITSEN T., LIPTON S. H., STRONG F. M., WAISMAN H. A. On the isolation and identification of homocitrulline from urine. Biochem Biophys Res Commun. 1961 Apr 7;4:379–383. doi: 10.1016/0006-291x(61)90222-4. [DOI] [PubMed] [Google Scholar]
- GERRITSEN T., VAUGHN J. G., WAISMAN H. A. The origin of homocitrulline in the urine of infants. Arch Biochem Biophys. 1963 Feb;100:298–301. doi: 10.1016/0003-9861(63)90076-6. [DOI] [PubMed] [Google Scholar]
- GUTHRIE R., SUSI A. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS. Pediatrics. 1963 Sep;32:338–343. [PubMed] [Google Scholar]
- Komrower G. M., Griffiths M. J., Fowler B., Lambert A. M. A prospective community survey for aminoacidaemias. Proc R Soc Med. 1968 Mar;61(3):294–296. [PMC free article] [PubMed] [Google Scholar]
- Menkes J. H., Holtzman N. A. Neonatal hyperphenylalaninemia: a differential diagnosis. Neuropadiatrie. 1970 Apr;1(4):434–446. doi: 10.1055/s-0028-1091829. [DOI] [PubMed] [Google Scholar]
- O'Flynn M. E., Tillman P., Hsia D. Y. Hyperphenylalanemia without phenylketonuria. Am J Dis Child. 1967 Jan;113(1):22–30. doi: 10.1001/archpedi.1967.02090160072005. [DOI] [PubMed] [Google Scholar]
- SCRIVER C. R., DAVIES E., CULLEN A. M. APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES. Lancet. 1964 Aug 1;2(7353):230–232. doi: 10.1016/s0140-6736(64)90183-7. [DOI] [PubMed] [Google Scholar]
- Schneider A. J., Garrard S. D. Diagnostic and therapeutic implications of persistent hyperphenylalaninemia in an infant heterozygous for the gene of phenylketonuria. J Pediatr. 1966 May;68(5):704–712. doi: 10.1016/s0022-3476(66)80442-0. [DOI] [PubMed] [Google Scholar]
- Turner B., Brown D. A. Detection of urinary abnormalities in a well-baby population: results of a survey. Med J Aust. 1967 Mar 18;1(11):560–562. doi: 10.5694/j.1326-5377.1967.tb21454.x. [DOI] [PubMed] [Google Scholar]