Your Questions About Carnitine Deficiency

July 1, 2012
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Sharon asks…

anyone heard of Carnitine deficiency?

my friend was told her baby girl has got this just over a month ago but as it is very uncommon shes not really been given any information she is 9 months old and suffers with fits but they dont no what cause them as a result she is now blind with a little brain damge (they wont no how much till she is older) she was a normal healty little girl before all this so anyone with any information at all with what to expect or anything at all answers much appeciated thanks in advanced

admin answers:

Http://en.wikipedia.org/wiki/Primary_carnitine_deficiency

Thomas asks…

Is anyone familiar with a condition called Phosphorlase B Kinase Deficiency?

I was diagnosed with this condition along with Metabolic Myopathy with a Carnitine Deficiency. This was found when they did a muscle biopsy on me to try to find answers for me and my son who has the same health problems that I have.
We have flare-ups where we aren’t able to do anything for days at a time, nothing…then we have our “good days” when we can actually function.
Doctors don’t know too much about this, still trying to find out. I really want answers to try to help my son. He has to be home schooled because during his flare-ups he would miss too much school. And he really wants to be in school, he would actually be in the high school. It is so heart-breaking watching him go through this. It is bad enough that I have to live with it, but devastating to see him like this. Any help, any at all, is greatly appreciated.

admin answers:

I found out what it is in simple terms-
phosphorylase b kinase deficiency /phos·phor·y·lase b ki·nase de·fi·cien·cy/ an X-linked disorder of glycogen storage due to deficiency of the enzyme in the liver, characterized in affected males by hepatomegaly, occasional fasting hypoglycemia, and some growth stunt.

Dorland’s Medical Dictionary for Health Consumers. © 2007 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

I have tried looking for ore information on this condiction but this was all I can come up with.Is there any organizations that support the cause of this. Smethimes doctors offices have support groups and phamplets laying around that way you can find out more about the condiction. Sorry this was I can come up with.

Joseph asks…

is there a connection mcad deficiency and uti’s?

my 3yr old daughter was diagnosed with mcad deficiency and has been taking a carnitine supplement to help her kidneys get rid of toxins is there a connection between low carnitine levels and uti’s?

admin answers:

MCAD and the carnitine has nothing to do with uti’s. MCAD is a metabolic disorder and the carnitine is a naturally accuring enzyme that your daughter can’t make. The toxins are also building up in the liver so I dont think this would cause and uti’s. My son was diagnosed when he was 5 days old in october 2006. He is now a very happy, healthy and active 19 month old.

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