Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.
OBJECTIVE
To evaluate LCPUFA composition in PKU patients treated with BH(4).


METHODS
Cross-sectional study of plasma and erythrocyte LCPUFA composition of 13 PKU patients treated with BH(4) compared with data from 48 PKU patients on protein-restricted diet, and 17 mild HPA patients on free diet. PUFA were analysed by gas chromatography.


RESULTS
Plasma and erythrocyte docosahexaenoic acid (DHA), and LCPUFA deficiency markers did not show significant differences in PKU patients on BH(4) compared with those with mild HPA and our reference values, but they did in comparison with PKU on protein-restricted diet (p<0.0001). Essential fatty acids and arachidonic acid composition were not significantly different in any of the studied groups. DHA values correlate with the index of dietary control only in PKU patients on protein-restricted diet (p=0.002).


CONCLUSIONS
LCPUFA status is within the reference values in PKU patients treated with BH(4). This translates to a further advantage of BH(4) therapy.
Vilaseca
Maria A
MA
Department of Biochemistry, Barcelona, Spain. vilaseca@hsjdbcn.org
Lambruschini
Nilo
N
Gómez-López
Lilianne
L
Gutiérrez
Alejandra
A
Moreno
Juan
J
Tondo
Mireia
M
Artuch
Rafael
R
Campistol
Jaume
J
D000293:Adolescent; D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004032:Diet; D004281:Docosahexaenoic Acids / Q000097:blood; D004912:Erythrocytes / Q000378:metabolism; D005231:Fatty Acids, Unsaturated / Q000097:blood*; D006801:Humans; D007223:Infant; D010661:Phenylketonurias / Q000097:blood* / Q000188:drug therapy*; D010743:Phospholipids / Q000097:blood; D012016:Reference Values
D005231:Fatty Acids, Unsaturated; D010743:Phospholipids; D001708:Biopterins; D004281:Docosahexaenoic Acids; C003402:sapropterin