Treatable neurotransmitter deficiency in mild phenylketonuria.
The authors describe a case of neurologic involvement in mild hyperphenylalaninemia (HPA), not due to tetrahydrobiopterin (BH(4)) deficiency, with low levels of monoamine neurotransmitter metabolites in CSF. The combined BH(4)-Phe loading test suggested a BH(4) response, confirmed by clinical improvement after BH(4) therapy. Molecular study revealed a compound heterozygosity of the phenylalanine hydroxylase alleles: a mild HPA-associated mutation (T380M) and the new mutation D151E. This case demonstrates that even mild HPA, generally considered a benign disorder, may present neurologic impairment.
Bonafé
L
L
Division of Clinical Chemistry, Department of Pediatrics, University Children's Hospital, Zürich, Switzerland.
Blau
N
N
Burlina
A P
AP
Romstad
A
A
Güttler
F
F
Burlina
A B
AB
D000293:Adolescent; D000975:Antioxidants / Q000627:therapeutic use*; D015306:Biogenic Monoamines / Q000097:blood / Q000172:deficiency*; D001708:Biopterins / Q000031:analogs & derivatives* / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D010649:Phenylalanine / Q000097:blood / Q000627:therapeutic use; D010661:Phenylketonurias / Q000097:blood / Q000188:drug therapy*; D014443:Tyrosine / Q000097:blood
D000975:Antioxidants; D015306:Biogenic Monoamines; D001708:Biopterins; D014443:Tyrosine; D010649:Phenylalanine; C003402:sapropterin