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Amino Acids and Tyrosine Metabolism
- 1. Structural (monomers) units of Proteins AMINO ACIDS Harshdeep Singh Dhingra MBBS
- 2. Glycine, Hydroxyl and Sulphur containing Amino Acids
- 3. Tyrosine Non-essential amino acid Ketogenic and Glucogenic Deficiency leads to inborn errors of metabolism
- 4. Conversion of Phenylalanine to Tyrosine
- 6. Biologically Important substances synthesised from Tyrosine Catecholamines Thyroid Hormones Melanin Tyramine
- 7. Catecholamines C A T E C H O L A M I N E S h Blood Pressure Relaxation of smooth muscles of bronchi Anti – insulin in nature Response to stress h BMR h Na+ retention
- 8. Parkinson’s Disease In people over age of 60 years Shaking palsy Tremors Muscular stiffness, difficulty standing, difficulty walking Shuffling gait Daytime sleepiness Fatigue, dizziness Dementia Reduced facial expression Unconscious movement – swinging of arms during walking is reduced Tremors
- 9. Mainly due to degeneration of cells in the Substantia Nigra and Locus Ceruleus which produce which produces dopamine. Biochemical Lesion:
- 10. Management DOPA and DOPA analogue Medications: Dopamine promoter Antidepressants Anti tremor
- 11. Thyroid Hormones
- 12. Melanin Cu2+ Tyrosinase and Tyrosine hydroxylase are different. Albinism and Leukoderma are different.
- 13. Tyramine bacterial enzyme Present in chocolate, cocoa, wine, fish, meat, cheese, yeast, beans, peas, papaya and peanut etc. This may precipitate an attack of migraine.
- 14. Metabolic disorders of Tyrosine metabolism Phenylketonuria Alkaptonuria Albinism Tyrosinemias Tyrosinemia Type I (hepatorenal tyrosinemia) Tyrosinemia Type II (occulocutaneous tyrsinemia) Neonatal Tyrosinemia
- 15. Phenylketonuria – Metabolic Defect Minor variant: Due to enzyme dihydrobiopteri n reductase
- 16. Phenylketonuria – Altered Metabolism Presence in urine gives mousey odour
- 17. Phenylketonuria – Clinical Features Autosomal recessive Mental retardation Microephaly Seizures Epilepsy Low IQ Stunted growth Unusual gait Convulsions Tremors Mousey body odour (phenyl lactate) Hypopigmentation (light colour of hair skin and eyes)
- 18. Excess of Phenylalanine in plasma inhibit the enzyme tyrosinase that is essential for melanin synthesis. Hypopigmentation:
- 19. Guthrie Test Phenylketonuria – Diagnosis A bacterial (Bascillus subtilis) bioassay for phenylalanine. It is a reliable investigation to detect PKU. FeCl3 Test Phenylketones in urine can be detected by this test. (500-3000 mg/dl excreted in urine) A blue green colour is obtained indicating the presence of phenylketones. DNA Probe A gene for coding phenylalanine hydroxylase is cloned. Prenatal diagnosis of PKU can be done by DNA probe.
- 20. Blood Phe level Phenylketonuria – Diagnosis Normal phenylalanine level is 1 mg/dl, in PKU it is > 20 mg/dl . This can be diagnosed with paper chromatography.
- 21. Phenylketonuria – Management Early detection is required as IQ decrease by 5 units for each 10 week delay. Consumption of diet restricted in phenylalanine but supplemented with tyrosine. Artificial sweetener aspartame present in soft drinks should be avoided. Finally gene replacement therapy is the hope.
- 22. Alkaptonuria – Metabolic Defect
- 23. Alkaptonuria – Biochemical Changes Black Bodies
- 24. Due to of ALKAPTON BODIES in the vertebral disc later leads to ARTHRITIS. Ochronosis:
- 25. Due to of ALKAPTON BODIES in ear pinna and eyes. Ochronosis:
- 26. Due to oxidation of HOMOGENTISATE to corresponding QUINONES. Black urine:
- 27. Alkaptonuria – Diagnosis Traditional method FeCl3 Test Due to reducing activity of homogentisate. Urine becomes black on standing. Benedict’s Test Muddy yellow precipitates. Detection of homogentisic acid by GC/MS.
- 28. Alkaptonuria – Management No specific treatment required Symptomatic relief Low dietary Phe High dosages of Ascorbate to stall pigment deposition on collagen
- 29. Albinism Autosomal recessive Due to lack of synthesis of melanin Due to deficiency of enzyme tyrosinase Two types: 1. Occulocutaneous 2. Ocular Tyrosine DOPA Dopaquinone Melanin Tyrosinas e
- 30. Albinism – Clinical Features Photophobia Nystagmus Astigmatism Sun burns Skin cancer Pale blue or red coloured eyes
- 31. Albinism – Diagnosis Genetic Testing Electroretinogram Test
- 32. Tyrosinemia Type I – Metabolic Defect Metabolic defect occurs due to deficiency of enzyme fumarylacetoacetate hydroxylase Also called tyronosis or hepatorenal tyrosinemia
- 33. Tyrosinemia Type I – Clinical Features Liver failure Rickets Renal tubular dysfunction Polyneuropathy Diarrhea Vomiting Cabbage like odour DNA alkylation and has tumour forming tendencies
- 34. Tyrosinemia Type I – Management Diet low in tyrosine, phenylalanine and methionine.
- 35. Tyrosinemia Type II – Metabolic Defect
- 36. Tyrosinemia Type II – Clinical Features Skin Lesions Eye Lesions Mental retardation
- 37. Neonatal Tyrosinemia This is a temporary condition that responds to vitamin C (ascorbic acid)