title: Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
abstract: A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of British Columbia, Children's and Women's Health Centre of British Columbia, Vancouver, BC, Canada. pjwaters@cw.bc.ca
authors.forename: Paula J
authors.initials: PJ
authors.lastname: Waters
authors.forename: Minesh
authors.initials: M
authors.lastname: Khashu
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Lillquist
authors.forename: Christof
authors.initials: C
authors.lastname: Senger
authors.forename: Andre
authors.initials: A
authors.lastname: Mattman
authors.forename: Michelle
authors.initials: M
authors.lastname: Demos
authors.forename: Kenneth
authors.initials: K
authors.lastname: Setchell
authors.forename: Anthony
authors.initials: A
authors.lastname: Rupar
authors.forename: Patrick
authors.initials: P
authors.lastname: Scott
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Hilary D
authors.initials: HD
authors.lastname: Vallance
mesh_terms: D000596:Amino Acids / Q000097:blood; D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency; D017809:Fatal Outcome; D017353:Gene Deletion; D006432:Hemochromatosis / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007684:Kidney Tubules / Q000473:pathology*; D017093:Liver Failure / Q000209:etiology; D008297:Male; D010661:Phenylketonurias / Q000150:complications* / Q000235:genetics; D013577:Syndrome
chemical_list: D000596:Amino Acids; D001708:Biopterins; C003402:sapropterin