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Plasma thiols and their determinants in phenylketonuria
1Biochemistry Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
European Journal of Clinical Nutrition
|July 25, 2003
Summary
Phenylketonuria (PKU) patients show lower plasma homocysteine levels, likely due to higher folate. Poor dietary compliance in PKU is linked to lower cobalamin levels.
Area of Science:
- Biochemistry
- Nutritional Science
- Metabolic Disorders
Background:
- Phenylketonuria (PKU) management involves a phenylalanine-restricted diet supplemented with essential nutrients.
- Vitamins and oligoelements can be deficient with poor adherence to special formula.
- Plasma thiol concentrations, particularly homocysteine, are sensitive indicators of B-vitamin status.
Purpose of the Study:
- To evaluate plasma thiol concentrations (homocysteine, cysteine, glutathione) in PKU patients on dietary treatment.
- To assess determinants of plasma thiols, including methionine, cobalamin, and folate.
- To compare these markers in PKU patients versus age-matched controls.
Main Methods:
- A cross-sectional study involving 42 PKU patients and 42 controls.
- Analysis of plasma total homocysteine, cysteine, and glutathione using HPLC.
- Measurement of plasma phenylalanine, methionine, serum folate, and cobalamin via chromatography and radioimmunoassay.
Main Results:
- PKU patients exhibited significantly lower plasma total homocysteine compared to controls (P<0.0001).
- Serum folate and cobalamin levels were significantly higher in the PKU group (P<0.0001).
- Negative correlations were found between total homocysteine and folate (r=-0.378; P=0.016), and cobalamin and phenylalanine (r=-0.367; P=0.022) in PKU patients.
Conclusions:
- Lower plasma total homocysteine in PKU patients may be attributed to elevated folate levels.
- High phenylalanine levels, indicating poor dietary compliance, correlate negatively with cobalamin, suggesting potential deficiency.