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When to consider amino acid analysis• Neonate- Lethargy/coma/seizures/vomiting• Hyperammonaemia• Hypoglycaemia• Ketosis• Metabolic acidosis or lactic acidaemia• Metabolic decompensation/encephalopathy• Unexplained Liver disease• Unexplained developmental delay• Renal disorders- Calculi, Tubulopathy
Specific considerations• Gyrate atrophy of retina Ornithine Amino Transferase deficiency• Marfan-like appearance/Vascular abnormalities Homocystinuria (Cystathione B Synthase def)• Hyperkeratosis Tyrosinaemia Type II
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: Some pitfalls to avoid• Not alway
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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