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Amino acid disorders• Clinically and biochemically heterogeneous• Can present at any age• Characterised by Pathological accumulation of normal metabolites Presence of non-physiological metabolites• Combined incidence 1:6000

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Page 1 and 2: Amino Acid Analysis-Back to basics
Page 3: Amino Acid Structure• Amino group
Page 7: Primary renal amino acid disorders
Page 10 and 11: When to consider amino acid analysi
Page 12 and 13: Choice of sample• Plasma Most inf
Page 14 and 15: Spot tests• Ferric Chloride React
Page 16 and 17: Qualitative analysis• Thin Layer
Page 18 and 19: TLC- Maple Syrup Urine Disease
Page 20 and 21: Amino acid analyser (AAA)
Page 22 and 23: AAA- separation
Page 24 and 25: Quantitative analysis- TMS
Page 26 and 27: TMS-Maple Syrup Urine Disease
Page 28 and 29: I n t e n s i t y , c p sTMS-Amino

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