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Detection of inborn errors of metabolism
Author(s) -
Hill Helene Z.,
Goodman Stephen I.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb00635.x
Subject(s) - citrullinemia , galactosemia , inborn error of metabolism , homocystinuria , amino acid metabolism , metabolism , biology , galactose , biochemistry , genetics , medicine , urea cycle , amino acid , arginine , methionine
The autoradiographic method utilized to distinguish between fibroblasts cultured from normal individuals and those from patients with inherited biochemical blocks in the galactose pathway and in the propionic acid pathway has been adapted for use in the detection of citrullinemia and argininosuccinic aciduria. The usefullnes of such tests in screening for inherited biochemical defects is discussed.