5. Phenylketonuria, Alkaptonuria, Albinism and Parkinson's ds

Inborn errors of phenylalanine and tyrosine metabolism by Dr Rajesh Jambhulkar, MBBS,MD,DNB-BIOCHEMISTRY
Simple
Stepwise
Easy to understand
Power point presentation
Content from- Harper, Tietz, Satyanarayan, Vasudevan
Clinical cases
case 1. blue eyes, mental retardation, fair hair, mousy odor of urine- Phenylketonuria
case 2. blue eyes, generalized hypo-pigmentation, fair hair, photo-phobia- Albinism
case-3.Arthritis/joint pain, black colored deposit in any tissue, urine turns to black color on standing- Alkaptonuria
case 4. white patches (localized hypo-pigmentation) - Vitiligo or Leucoderma