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Section G-Group 1
Objectives
Folling’s Disease
Autosomal recessive
Mutation in the PAH Gene at Chromosome 12
Has two types: Classical or Non-classical
Defective conversion of Phenylalanine to Tyrosine
Urine Odor: Mousy
Types of Phenylketonuria
Classical Phenylketonuria
• Severe type
• Inborn
• Near complete to complete deficiency of Phenylalanine
hydroxylase
– Leads to toxic accumulation of Phenylalanine in the
blood and brain
Non-classical Phenylketonuria
1. Hypopigmentation
2. Mental Retardation
1. Dark Urine
2. Ochronosis
Chromatography
– For detection of significant amount of homogentisic a
cid in the urine
Diagnostic Procedures (PKU)
DNA testing
Suggestive findings
– Dark urine
– Ochronosis
– Arthritis
Treatment and Management
Treatment and Management (PKU)
Formulation for infants
– For detection of mutation in HGD gene (codes for
homogentistate 1,2 dioxygenase)
• Vitamin C