nemoci-sympt/METABOLISMUS/downuv-syndrom/vysetreni
Vyšetření
Krev
- Tsh, ft4, t3, ft3
- Phenylalanine
- Tyrosine
- Phe/Tyr ratio
- BH4-testing - decrease of Phe pokud byl vyšší Phe
- Kortizol
- phenylalanine hydroxylase (PAH) activity (?)
- Glutathion (?)
- Pterins - neopterin, biopterin
- Activity of Complex IV v mitochondriích ?
- CBS aktivita ?
- Sulfhemoglobin ?
Urinary
- Pterins - neopterin, biopterin
- Dihydropteridine reductase (DHPR) activity
- Urinary thiosulfate ?
Fenylalanin
- Pokud hladina fenylalaninu při novorozeneckém screeningu u vašeho dítěte byla vyšší než 360 mcmol/l
- Pravděpodobná fenylketonurie nebo porucha metabolismu pterinů
Mírně zvýšená haldina Phe ev poměru Phe/tyr = Podezření na poruchu pterinového metabolismu
- Analýza fenylalaninu a tyrosinu v plazmě potvrdí diagnózu PKU/HPA
- Vyšetření pterinů v moči
- Test s tetrahydrobiopterinem za hospitalizace ve specializovaném centru potvrdí či vyloučí možnou poruchu metabolismu pterinů.
A urine tyrosyl radical
- Produced from the oxidation of L-tyrosine by the myeloperoxidase-H2O2 system of macrophages and neutrophilis
- Proposed as an oxidative stress biomarker in hypothyroid DS children
- www.nature.com/articles/s41598-018-20834-y
Zdraví jedinci bez DS
- Neopterin - enzyme-linked immunosorbent
- 5.9±1.6 nmol/L (mean±SD)
- Mean KYN
- 1.78±0.42 µmol/L
- Mean TRP
- 67.4±10.2 µmol/L
- Males significantly higher
- KYN to TRP ratio (KYN/TRP)
- Estimate for the activity of tryptophan-degrading enzyme indoleamine 2,3-dioxygenase
- Was 26.7±6.2 µmol/mmol
- Mean PHE
- 65.2±11.1 µmol/L
- Mean TYR c
- 90.6±22.9 µmol/L
- Males significantly higher
- PHE to TYR ratio (PHE/TYR)
- Estimate for the activity of PHE-converting enzyme phenylalanine hydroxylase
- 0.75±0.14 µmol/µmol
- Nitrite concentrations
- 44.9±32.0 µmol/L
Significant correlations between
- Neopterin and KYN (rs=0.368)
- KYN/TRP (rs=0.453)
- TYR (rs=–0.267; all p<0.01) and PHE/TYR (rs=0.236; p<0.05) concentrations
- “low-grade” immune activation
- Slightly higher neopterin concentrations and biochemical alterations in the amino acid metabolism
- Changes may interfere with psychoneuroimmunological regulatory networks and thus be of clinical relevance
- www.degruyter.com/document/doi/10.1515/pterid-2014-0015/html
