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STUDIES IN THE TYROSINE METABOLISM OF PHENYLKETONURICS
Author(s) -
YU J. S.,
ADAMS B.,
O'HALLORAN MARY T.
Publication year - 1970
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1970.tb02844.x
Subject(s) - medicine , tyrosine , phenylalanine , phenylalanine hydroxylase , enzyme , endocrinology , disease , biochemistry , amino acid , biology
SUMMARY In phenylketonuria there is a deficiency of phenylalanine hydroxylase, the degree of deficiency determining the clinical severity of the disease. A total lack of the enzyme is found in the classical disease (Jervis, 1953; Mitoma et al., 1957; Wallace et al., 1957; Kaufman, 1958) while a partial lack has been demonstrated in cases of hyperphenylalaninaemia (Justice et al., 1967; Kang et al., 1970). The enzyme is necessary for the hepatic conversion of ingested l‐phenylalanine to l‐tyrosine.