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Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA
Author(s) -
Kaul R.,
Matalon R.,
Allen R.,
Fisch R. O.,
Michals K.,
Petrosky A.,
Sullivan D.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711829
Subject(s) - human genetics , phenylketonurias , mutation , metabolic disease , genetics , medicine , pediatrics , biology , phenylalanine , gene , amino acid
Phenylalanine hydroxylase (PAH) is a liver-specific enzyme involved in the hydroxylation of phenylalanine (phe) to tyrosine. The deficiency of PAH results in excessive accumulation of phe in body fluids that leads to phenylketonuria (PKT). Among Caucasians, PKT affects 1 in 10000 live births and the carrier frequency of this inherited metabolic disorder is 1 in 50 (Scriver et al 1989). Clinically, this disorder is accompanied by neurological impairment and mental retardation of varying degree that seem to bear a relationship to the residual PAH activity in these patients (Okano et al 1991; Ramus et al 1993)