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Common sample 2013 Viktor Kožich Petr Chrastina DPTC Czech Republic

Referral information for a 4-year-old boy diagnosed with Lysinuric Protein Intolerance. Mutation analysis revealed a frameshift mutation in SLC7A7 gene. Information on dysfunction of the urea cycle and analytical performance results included. Interpretation and recommendation details discussed.

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Common sample 2013 Viktor Kožich Petr Chrastina DPTC Czech Republic

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  1. Common sample 2013Viktor KožichPetr ChrastinaDPTC Czech Republic

  2. Sample referral information 4 years old boy • splenomegaly (known since 6 months of life) • failure to thrive • special eating behavior • spontaneously rejecting protein Sample was collected at the age of 17 years during a routine checkup while receiving specific treatment

  3. Sample referral information Diagnosis: Lysinuric protein intolerance This sample was contributed by Dr. Jeannette Klein from Charité-Campus Virchow – Klinikum in Berlin. The patient is followed by Dr. Julia Hennermann.

  4. Diagnosis confirmation Mutation analysis of SLC7A7 gene • homozygosity for a 2-bp deletion c.253_254delTT in exon 3 • This mutation has been described before in the literature and results in a frameshift and a premature translation termination codon. • Mutation analysis has been performed by Drs. Uusitalo and Laitinen in Turku. Finland.

  5. Model for the absorption/reabsorption of amino acidsin an intestinal/proximal tubule epithelial cell LPI Palacín M. Bertran J. Chillarón J. Estévez R. Zorzano A.: MGM 81. 2004

  6. Dysfunction of the urea cycle in LPI Palacín M. Bertran J. Chillarón J. Estévez R. Zorzano A.: MGM 81. 2004

  7. DPT Centers • Czech Republic 20 labs (3 no answer) • France 23 labs (1 no answer) • Netherlands 19 labs (1 no answer) • Switzerland 19 labs • United Kingdom 22 labs (2 no answer)

  8. Creatinine in urine

  9. Orotic acid in urine

  10. Orotic acid in urine 300 200 mmol/mol creatinine 100 0.0 CZ NL UK F CH IQR and adjacent values, outliers

  11. Amino acids in urine

  12. Amino acids profile (IEC-NHD) in urine lysine arginine cystine ornithine

  13. Lysine in urine 1000 mmol/mol creatinine 500 0 CZ NL UK F CH

  14. Analytical performance 1 point Amino acids Dibasic hyperaminoaciduria Organic acids/Purines/Pyrimidines Increased excretion of orotic acid 1 point

  15. Analytical performance

  16. Interpretation and recommendation • Scientific Advisory Board agreed in November 2012 that from 2013 the qualitative schemes will all adopt the same scoring system as other genetics disciplines • Two points will be given for interpretation including recommendation • Concept of „critical error“ will be introduced later • Harmonization of this new approach among the DPT schemes is ongoing process

  17. Interpretation

  18. Recommendations

  19. Recommendations

  20. Interpretative proficiency

  21. Total scoring

  22. Summary • Typical DPT sample with good proficiency scores • 10/95 participants did not detect elevated orotic acid • The DPT Centers are working towards harmonization of scoring interpretative proficiency that includes recommendations

  23. Viktor.Kozich@lf1.cuni.czPetr.Chrastina@vfn.cz

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