PhD Scientific Days 2017

Poster Presentation: Clinical Sciences

P29: Physiologic and catecholaminergic response to stress in adult patients with phenylketonuria

Előadó neve

Dr. Sumánszki, Csaba

Előadó munkahelye

2nd Department of Medicine, Semmelweis University, Budapest, Szentkirályi str. 46.

Előadó telefonszáma

06208250469

Előadó e-mail címe

sumanszki.csaba@gmail.com

Az előadás címe

Physiologic and catecholaminergic response to stress in adult patients with phenylketonuria

Szerző(k) neve és munkahelye

Csaba Sumánszki1, Fanni Palásti1, Krisztián Kovács2, Gellért Karvaly2, Erika Kiss3, Erika Simonova3, Atilla Patócs2,4,5, Péter Reismann1.
1 2nd Department of Medicine, Semmelweis University, Budapest
2 Department of Laboratory Medicine, Semmelweis University, Budapest
3 1st Department of Pediatrics, Semmelweis University, Budapest
4 Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University
5 “Lendület-2013” Research Group, Hungarian Academy of Sciences and Semmelweis University

Szekció

Poster Presentation: Clinical Sciences

Data of the presenter

Doctoral School: Clinical Medicine
Program: Hormonal regulations, Adult Phenylketonuria
Supervisor: Péter Reismann
E-mail address: sumanszki.csaba@gmail.com

Text of the abstract

Introduction: Defective function of phenylalanine-hydroxylase in phenylketonuria (PKU) results in the accumulation of phenylalanine (Phe) and reduction of its derivative tyrosine (Tyr) in the blood. Tyrosine is the precursor of catecholamines that are secreted in response to stress.
Aims: We hypothesized that patients with PKU have reduced catecholaminergic, therefore physiologic response to sympathetic stress stimulation.
Method: Nine adult males with PKU (age 24–38 years) where included in this monocentric cross sectional study. They were divided into two groups based on their annual Phe values, with the cut of point being the upper limit of 600 μmol/L: on diet (n=4) and loose diet (n=5). Their response to sympathetic stimulation was compared to a group of 9 age-matched healthy adult males.
After a period of 30-minute resting, basal plasma catecholamine, Phe, Tyr, blood pressure and heart rate where measured. Subsequently the subjects were exposed to two sympathetic stress stimulations: cold pressor and isometric handgrip test. Plasma catecholamine, Phe, Tyr, blood pressure and heart rate measured right after the test, and compared to the basal values.
Results: No significant difference was observed in basal values and sympathetic stress induced changes in heart rate and blood pressure between the PKU patients and controls. The corresponding resting norepinephrine, but not epinephrine, was higher in the controls (358.96 ±108.58 pg/mL) compared to the PKU group (221.18 ±59.37 pg/mL, P<0.007). Stress induced increase in norepinephrine was lower in the PKU groups compared to controls, although statistically not significant. Epinephrine levels showed similar stress induced surge in all groups. No significant difference was found between the on diet and loose diet group either in basal or in stressed results.
Conclusion: The physiological response to stress was normal in both PKU groups compared to controls. Lower basal norepinephrine suggests altered catecholamine metabolism in PKU patients, despite good metabolic control.

Azonosító

P29

Kind

Szabad

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

1303

Authors (legacy)

Csaba Sumánszki1, Fanni Palásti1, Krisztián Kovács2, Gellért Karvaly2, Erika Kiss3, Erika Simonova3, Atilla Patócs2,4,5, Péter Reismann1.
1 2nd Department of Medicine, Semmelweis University, Budapest
2 Department of Laboratory Medicine, Semmelweis University, Budapest
3 1st Department of Pediatrics, Semmelweis University, Budapest
4 Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University
5 “Lendület-2013” Research Group, Hungarian Academy of Sciences and Semmelweis University