Phenylketonuria - Sanjay Manohar's Medical Browser
Phenylketonuria
external
Synonyms
PKU
Phenylalanine hydroxylase deficiency
Folling's disease
Causes
PAH gene mutation
Effects
Phenylpyruvate in urine
Cerebral lesion
Behavioural change
Seizure
Musty breath odour
Dermatitis
Congenital dislocation of hip
Congenital heart disease due to genetic syndromes
Parents
Aminoacidopathies
Autosomal recessive disorder
Treatments
Guthrie test
Protein restriction
Tyrosine
Description
"Phenylalanine dehydroxylase gene mutation "
Type item name:
Sanjay Manohar
2006