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Subject:
From:
"Patricia B. Drazin, IBCLC" <[log in to unmask]>
Reply To:
Lactation Information and Discussion <[log in to unmask]>
Date:
Sun, 11 May 1997 05:55:16 -0400
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In a message dated 97-05-10 21:08:46 EDT, you write:
Tammy& Rita:

         I will answer what I can.....

<< Questions:

         Is a deficiency in galactokinase also considered galactosemia, or is
that term reserved for deficiency of galactose-1-phosphate uridyl
transferrase?

         there are three merabolic disorders that cause galactosemia: one is
clasical galactosemia: galactose 1 phosphate urifyl teansferrase deficiency
another is galactokinase deficiency and the third is uridine diphosphate
galactose 4 epimerase deficincy.

       galactosemia is the inability to metabolise galactose.

        galactokinase deficiency: it is a disorder of carbohydrate
metabolism.   hedeficiency is the enzyme: gaactokinase. this enzyme functions
in the metabolism of glycogen. the result is that galactose is not
metabolized.

         they each are errors in the metabolic pathway.

          they are two different tests looking at two different things.

         Are there degrees of disease, or are these deficiencies
all-or-nothing?

            " some patients have a partial enzyme deficiency that does not
result in cin impairment of galactose metabolism."


         How common are false positives for any of these tests?


        How much damage would continuing to nurse for a week cause if there
 is a deficiency in galactokinase, and what kind of damage could be expected?

         Lawrence and Auerbach & Riordan say "the baby will soon develop
 symptoms."  How soon is soon?  Days?  Weeks?  What kind of symptoms?

          the damage from this can be devastating which is why the physician
is asking mom not to bf until they are sure and i assume wanting baby on a
restricted diet.

         baby's with this metabolic disorder are very sick.



                     Patricia

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