In Phenylketonuria, the first line therapy is:
In phenylketonuria:- There is accumulation of phenylalanine Accumulated phenylalanine inhibits the transpo of other amino acids required for neurotransmitter synthesis, reduces synthesis and increases degradation of myelin - Mental retardation Breastfeeding introduces phenylalanine and symptoms will be:- 1. Vomiting 2. Irritability 3. Convulsions & tremors are the usual presentations. Thus, limiting the substrate of the deficient enzyme, i.e. phenylalanine, is the first-line of management. Breastfeeding should be avoided.
Replacement of the defective enzyme
Replacement of the deficient product
Limiting the substrate for deficient enzyme
Giving the missing amino acid by diet
Phenylalanine and Tyrosine metabolism Detail