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Choice of sample• Plasma Most informative Often not the sample of choice by families• Urine AA concentrations much more variable Prone to interference from medication Necessary for diagnosis of renal transport disorders• CSF Useful in specific disorders Paired with plasma
Amino acid analysis• Spot test• Qualitative screening TLC HVE• Quantitative analysis HPLC AAA TMS
Page 1 and 2: Amino Acid Analysis-Back to basics
Page 3: Amino Acid Structure• Amino group
Page 6 and 7: Primary amino acid disorders• Phe
Page 9 and 10: Some pitfalls to avoid• Not alway
Page 11: Specific considerations• Gyrate a
Page 15 and 16: Spot testsADVANTAGES• Cheap• Ea
Page 17 and 18: Qualitative screeningADVANTAGES•
Page 19 and 20: Quantitative analysis• Separation
Page 21 and 22: Quantitative analysis- AAAADVANTAGE
Page 23 and 24: AAA- Maple Syrup Urine Diseasealloi
Page 25 and 26: Quantitative analysis- TMSADVANTAGE
Page 27 and 28: TMS- Future of routine AA analysis
Page 29: Conclusion• Understand the limita

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