Treatable neurotransmitter deficiency in mild phenylketonuria
Details
Serval ID
serval:BIB_104D4977B5F8
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Treatable neurotransmitter deficiency in mild phenylketonuria
Journal
Neurology
ISSN
0028-3878
Publication state
Published
Issued date
09/2001
Peer-reviewed
Oui
Volume
57
Number
5
Pages
908-11
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep 11
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep 11
Abstract
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.
Keywords
Adolescent
Antioxidants/*therapeutic use
Biogenic Monoamines/blood/*deficiency
Biopterin/*analogs & derivatives/blood/*deficiency/*therapeutic use
Female
Humans
Phenylalanine/blood/therapeutic use
Phenylketonurias/blood/*drug therapy
Tyrosine/blood
Pubmed
Web of science
Create date
21/01/2008 13:50
Last modification date
20/08/2019 13:37