The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist

@article{Centerwall2000TheDO,
  title={The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist},
  author={Siegried A. Centerwall and Willard R. Centerwall},
  journal={Pediatrics},
  year={2000},
  volume={105},
  pages={103 - 89}
}
In the 1920s, a little girl 3 years of age was brought from China to the United States by her American mother. [] Key Method In the United States, she also went from doctors to psychologists to clinics looking for someone who could help. Finally, she went to the Mayo Clinic in Rochester, Minnesota. When she had answered all of the doctor's questions, and all the tests were finished, they still could not tell her what was wrong. There was nothing they could do. The disease from which the little girl suffered…
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A probable case of phenylketonuria is reported in a figure from "Der Schimmelreiter", a novella by German author Theodor Storm (1817-1888), published in 1888, which leads us to believe that Storm in fact described a case of Phenylket onuria, a condition not reported until Følling's description in 1934.
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References

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Effect of a phenylalanine-restricted diet on patients with phenylketonuria; clinical observations in three cases.
TLDR
The major biochemical abnormalities in all the patients studied were found to disappear when the high blood levels of phenylalanine, which are characteristic of the disorder, were reduced to the normal range by the dietary regimen.
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
TLDR
A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood phenylalanine associated with phenylketonuria, and results indicate that a very low rate of "false-positives" will be encountered during screening of the 10,000 or more infants that may be necessary to detect a case of phenyl ketonuria.
Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
TLDR
Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups, and a significant correlation has been observed between residual PAH activity and disease phenotype.
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.
TLDR
A robust and accurate semiautomated method for the analysis of medium chain length acylcarnitines as their butyl esters was developed and validated and a validated method now exists for prospective newborn screening for MCAD deficiency.
Fluorimetric method for the determination of phenylalanine in serum
Abstract The fluorimetric determination of phenylalanine is based on the enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by a peptide, leucylalaninc. The method allows
The Child Who Never Grew
Phenylketonuria (FOLLING's disease). The story of its discovery.
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