John jvh100 at
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
I don't know if this will be of help to you or not but here goes.......


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 

Es kommt auf die weissheit an! Wer verstanden hat berechne die nummer des
wilden tieres weil die ein mensch ist und seine zahl ist 666.
Beware.... it's coming to get *you*!

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