phenylketonuria

John jvh100 at york.ac.uk
Wed Feb 11 18:19:34 EST 1998


On Mon, 9 Feb 1998, Eirik Korsell wrote:

> can anyone please explain in some biochemical detail what connection
> there might be between phenylketonuria and transamination/deamination of
> glutamate in particular and amino-acid metabolism, or suggest a textbook
> on this topic.
> 
> Eirik Korsell
> 
> 
Eirik,
I don't know if this will be of help to you or not but here goes.......

				John,




http://www.kcc.com.msu.edu/CAI/Pathology/Toxic_F/Toxic_3b2.html



1. Phenylketonuria (disorder of amino acid metabolism)

          a) Biochemical defect: deficiency of phenylalanine hydroxylase,
which converts phenylalanine to tyrosine; increased
          blood levels of phenylalanine and increased urinary excretion of
phenylpyruvic acid. 

          b) Clinical expression: symptoms in infancy or early childhood;
mental retardation, seizure and hyperactivity 

          c) Detection: practically all newborns are screened (Guthrie
test-serum analysis). 

          d) Therapy: low phenylalanine diet supplemented with tyrosine.

          e) Pathological Characteristics: 

          -hypomyelination; gliosis; microcephaly 

               -no lysosomal storage in neurons 



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