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Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study

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Drzymała-Czyż S., Kałużny Ł., Krzyżanowska-Jankowska P., Walkowiak D., Mozrzymas R., Walkowiak J.

Acta Biochimica Polonica

2018

vol. 65

issue 2

303-308

The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on the diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The amount of C14:0, C16:0 and C16:1n-7, C18:1n-9 did not differ between the analyzed groups. The percentage of C18:0 was higher, while C20:3n-9, C18:2n-6, C20:2n-6, C20:4n-6, C22:4n-6, C22:5n-6 and C22:6n-3 was lower in PKU than in HS. However, C18:3n-6, C18:3n-3 and n-6/n-3 ratio were higher in PKU patients. The C20:4n-6/C20:3n-6 ratio (reaction catalyzed by Δ5-desaturase), the C22:5n-6/C22:4n-6 and the C22:6n-3/C22:5n-3 ratio (both reactions catalyzed by Δ6 desaturase) were significantly lower in PKU patients. Therefore, the deficiency of long-chain polyunsaturated fatty acids in PKU patients may result not only from inadequate supply but also from metabolic disturbances.

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

68%

Bik-Multanowski M., Kaluzny L., Mozrzymas R., Oltarzewski M., Starostecka E., Lange A., Didycz B., Gizewska M., Ulewicz-Filipowicz J., Chrobot A., Mikoluc B., Szymczakiewicz-Multanowska A., Cichy W., Pietrzyk J.

Acta Biochimica Polonica

2013

vol. 60

issue 4

613-616

Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.

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2 Acta Biochimica Polonica

1 2018

1 2013

2 Mozrzymas R.

1 Bik-Multanowski M.

1 Chrobot A.

1 Cichy W.

1 Didycz B.

1 Drzymała-Czyż S.

1 Gizewska M.

1 Kaluzny L.

1 Kałużny Ł.

1 Krzyżanowska-Jankowska P.

1 Lange A.

1 Mikoluc B.

1 Oltarzewski M.

1 Pietrzyk J.

1 Starostecka E.

1 Szymczakiewicz-Multanowska A.

1 Ulewicz-Filipowicz J.

1 Walkowiak D.

1 Walkowiak J.

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Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness