Human biochemical genetics / by H. Harris.

  • Harris, Harry, 1919-1994.
Date:
1966
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Human biochemical genetics / by H. Harris. Source: Wellcome Collection.

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    PHENYLKETONURIA 39 clinically abnormal, though it has been suggested that they might be slightly more prone than other people to develop some form of psychosis in later Hfe(6). Recently it has been shown that they may be distinguished biochemically (see p. 48). Table 8. Familial distribution of phenylketonuria Sibships containing at least one Phenylketonurie , > Parents Biochemical findings The urine. Although phenylpyruvic acid was the first metabolite to be found in abnormal quantities in the urine of Phenylketonurie patients, it is now known that a number of other substances are also Phenylalanine œoH Phenylpyruvic acid COOH Fhenyllactic acid Phenylacetyl- glutamine CONH, a Cö -CH.-COOH ÇH, COOH CH.-CHOH-COOH o-Hydroxyphenyl- acetic acid Indolylacetic acid Indolyllactic acid Fig. 6. Substances excreted in unusual amounts in phenylketonuria. regularly present in unusual amounts (Fig. 6). Quantitatively the most important of these are phenylalanine and its derivatives phenyl- lactic acid(7,8,9) and phenylacetylglutamine(io). The amounts of phenylpyruvic acid excreted and also of these other related substances