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Primary amino acid disorders• Phenylketonuria• Tyrosinaemia (I/II/III)• Maple Syrup UrineDisease• Homocystinuria• Non-KetoticHyperglycinaemia• Hyperprolinaemia (I/II)• Sulphite oxidase def• OAT deficiency• Urea Cycle Disorders OTC deficiency CPS deficiency Citrullinaemia Argininosuccinicaciduria Argininaemia NAGS deficiency HHH
Primary renal amino acid disorders• Cystinuria Cystine, Ornithine, Arginine, Lysine• Hartnup disease Neutral amino aciduria• Lysinuric protein intolerance Lysine, Ornithine, Arginine• Iminoglycinuria Proline, Hydroxyproline, Glycine
Page 1 and 2: Amino Acid Analysis-Back to basics
Page 3: Amino Acid Structure• Amino group
Page 9 and 10: Some pitfalls to avoid• Not alway
Page 11 and 12: Specific considerations• Gyrate a
Page 13 and 14: Amino acid analysis• Spot test•
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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