Pyruvate Kinase Deficiency

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Alice in Lox
New Member


Date Joined Aug 2008
Total Posts : 4
   Posted 8/28/2008 4:19 PM (GMT -7)   
Can someone explain this disease to me?
 
My daughter-law is RH and lost her first child to due to this.  Their second child received blood transfusions inutero and is still receiving regular transfusions - he is 3 years old.
 
The mother is extremely defiant in letting the family know anything about the child's illness and has no real basis for the diagnosis - could this be a form of munchausen by proxy?  We are working to get files open to see if this child is being transfused unecessarily...please help assure me that this is a real illness and not something that she is making up.  thanks.

Sarita
Veteran Member


Date Joined Mar 2005
Total Posts : 2486
   Posted 8/28/2008 5:10 PM (GMT -7)   
Yes, there is such a thing as pyruvate kinase deficiency. I am not a physician but a medical student. No one on this board (myself included) can diagnose your grandson with pyruvate kinase deficiency or your daughter-in-law with bipolar disorder. So this is FYI only: pyruvate kinase deficiency would necessitate frequent blood transfusions in more serious cases. Basically, pyruvate kinase is an enzyme that is used by red blood cells, and without it, the red blood cells break down very easily; hence, the need for frequent transfusions.

Rather than listen to a stranger from a web board, however, for this type of question, I would encourage you to speak to your son and daughter-in-law, and perhaps your own physician, about your concerns. Pyruvate kinase deficiency, bipolar disorder, and Munchausen-by-Proxy are not disorders to be taken lightly!
Co-moderator - IBS Forum

Please always remember to consult your medical professional regarding your medical questions; this forum is intended to provide patient-to-patient support. Although some of us have healthcare backgrounds, we cannot diagnose or treat patients on the board.


Alice in Lox
New Member


Date Joined Aug 2008
Total Posts : 4
   Posted 8/28/2008 5:31 PM (GMT -7)   
Thank you, Sarita

serafena
Veteran Member


Date Joined May 2007
Total Posts : 3715
   Posted 8/28/2008 9:12 PM (GMT -7)   
Alice in Lox,

I wanted to welcome you to the board and to wish you luck. I had never heard of the disease before you brought it up, so I looked it up and basically confirmed very generally what Sarita said. So I can't be of much more help to you. But I do know bipolar disorder, so if you have questions there, fire away.

serafena
Serafena
Co-Moderator, Bipolar Forum
Bipolar II

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