A comprehensive presentation on Phenylketonuria for MBBS, BDS, B Pharm & Biotechnology students to facilitate self-study.

1. Phenylketonuria
Dr Rohini C Sane

2. Metabolism of Phenyl alanine & Tyrosine
• phenyl alanine -essential
• Tyrosine- non essential
• Phenyl alanine & Tyrosine- Glucogenic & Ketogenic

3. Metabolism of Phenyl alanine & Tyrosine

4. Ketogenic
Glucogenic
Metabolism of
Phenylalanine
& Tyrosine

6. Causes OF Phenylalanine
1.Genetic Mutation of Phenylalanine 2. Genetic Mutation of Dihydropterin Reductase

8. Phenylketonuria
& Mental Retardation

9. Phenylketonuria & Central Nervous system
• Autosomal recessive gene
Effects on central nervous system
1. Mental retardation
2. Failure to walk or talk
3. Failure of growth
4. Seizure
5. Tremers
6. Low IQ

10. Phenylketonuria & Serotonin
• Accumulation of Phenylalanine in brain impairs transport &
metabolism of tryptophan& Tyrosine
• Synthesis of Serotonin decreased  defective synthesis of myelin
sheath
• Tryptophan
↓
Serotonin ( an excitatory neurotransmitter from Tryptophan)

11. Inheritance of
Phenylketonuria

12. Of Phenylketonuria

13. Phenylketonuria-
& Chromosome 12

14. Phenylketonuria

15. Phenylketonuria-defective hormone synthesis

16. Phenylketonuria-defective Hormone synthesis

17. Hypopigmentation -Lack of pigmentation in skin ,eyes , hair
Decrease melanin synthesis from Tyrosine ( phenylalanine is substrate for
synthesis )

18. Phenylketonuria-
Mousy Odour of
urine

19.  Elevated levels of
Phenylalanine
Phenyl lactate MOUSY ODOR OF URINE
Phenyl acetate
Phenyl glutamine
Phenylketonuria- Urinary excretion of metabolites

20. Phenylketonuria-
Urinary excretion of metabolites

26. Diagnosis of Phenylketonuria
• Increased serum levels of Phenylalanine
• Guthrie test (BIOASSAY -USING BACILLUS SUBTILIS )
• URINE + FeCl3  GREEN COLOR

27. Diagnosis of Phenylketonuria

28. Diagnosis of Phenylketonuria-Guthrie test

29. Diagnosis of Phenylketonuria

30. Diagnosis of Phenylketonuria

31. Treatment of Phenylketonuria - (Dietary )
1. Low protein diet
2. Low Phe contents for 5 yrs
3. 5- hydroxy TRP/DOPA supplementation 
synthesis of Dopa /serotinine /catecholamines
4. Supplementation of Tyrosine

33. Treatment of Phenylketonuria –(Genetic)
Treatment of Phenylketonuria-awaited for clinical trials
• Gene Therapy
• Stem cell therapy

34. Treatment of Phenylketonuria-Gene therapy

35. Treatment of Phenylketonuria-Ex –vivo Gene therapy

36. Treatment of Phenylketonuria –Stem cell therapy