Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
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.
Waters
Paula J
PJ
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
Khashu
Minesh
M
Lillquist
Yolanda
Y
Senger
Christof
C
Mattman
Andre
A
Demos
Michelle
M
Setchell
Kenneth
K
Rupar
Anthony
A
Scott
Patrick
P
Blau
Nenad
N
Vallance
Hilary D
HD
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
D000596:Amino Acids; D001708:Biopterins; C003402:sapropterin