title: A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
abstract: A patient with guanosine triphosphate cyclohydrolase I deficiency passed the newborn phenylketonuria screening program. The characteristic clinical phenotype developed in a 5-month-old patient; elevated plasma phenylalanine, undetectable urinary pterins, and absence of the enzyme activity in a liver biopsy were present. A point mutation that results in an amino acid substitution from methionine to isoleucine at position 211 was proposed to be the cause for this new phenotypic expression of guanosine triphosphate cyclohydrolase I deficiency.
authors.affiliation: Department of Pediatrics, University of Zurich, Switzerland.
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: H
authors.initials: H
authors.lastname: Ichinose
authors.forename: T
authors.initials: T
authors.lastname: Nagatsu
authors.forename: C W
authors.initials: CW
authors.lastname: Heizmann
authors.forename: F
authors.initials: F
authors.lastname: Zacchello
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
mesh_terms: D001483:Base Sequence; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism / Q000627:therapeutic use; D003951:Diagnostic Errors; D006136:GTP Cyclohydrolase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010661:Phenylketonurias / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D017354:Point Mutation
chemical_list: D001708:Biopterins; D006136:GTP Cyclohydrolase; C003402:sapropterin