BerniceEllis
03-03-2001, 09:03 PM
I am not sure what is the right board to put this. I am living in Sydney Australia and I ask for anyone that reads this to please help if you can.
My StepSister just had her baby boy on the 7th of February 2001. He has been diagnosed with M-C.A.D. Enzyme Deficiency. This enzyme is needed to breakdown the fat in foods. It is very rare disease and was only discovered in 1985.
I am looking for ANY and ALL information regarding this disease - anyone that has a child with it, or had been in contact with anyone that has had it.
Please - if you can suggest a place for me go look for help I will be very much appreciative.
What I know so far is that my sister needs to feed Caleb every 4 hours for 6 years. She is going for tests and to learn more about this at the Sydney Children's Hospital in four days time.
Unfortunately a rift in the family has meant that I can not be there for her like I would like to - but I can do this for her - I can search every corner of the internet and find every scrap of information for her.
Please someone if you have a suggestion - I would love to hear it.
you can reply here or send an email to bern131072@yahoo.com.au (please put M-C.A.D. Enzyme Deficiency in the subject heading - as I get alot of spam mail and tend to delete anything from addresses I am unfamiliar with)
My name is Bernice Ellis. I will give further private details to anyone that can help with information.
My StepSister just had her baby boy on the 7th of February 2001. He has been diagnosed with M-C.A.D. Enzyme Deficiency. This enzyme is needed to breakdown the fat in foods. It is very rare disease and was only discovered in 1985.
I am looking for ANY and ALL information regarding this disease - anyone that has a child with it, or had been in contact with anyone that has had it.
Please - if you can suggest a place for me go look for help I will be very much appreciative.
What I know so far is that my sister needs to feed Caleb every 4 hours for 6 years. She is going for tests and to learn more about this at the Sydney Children's Hospital in four days time.
Unfortunately a rift in the family has meant that I can not be there for her like I would like to - but I can do this for her - I can search every corner of the internet and find every scrap of information for her.
Please someone if you have a suggestion - I would love to hear it.
you can reply here or send an email to bern131072@yahoo.com.au (please put M-C.A.D. Enzyme Deficiency in the subject heading - as I get alot of spam mail and tend to delete anything from addresses I am unfamiliar with)
My name is Bernice Ellis. I will give further private details to anyone that can help with information.
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BerniceEllis
03-03-2001, 11:39 PM
Medium Chain COAD-hydrogenase is another term for it.
Only recently been introduced (last 6 months) into the newborn test/scan.
Only recently been introduced (last 6 months) into the newborn test/scan.
BerniceEllis
03-09-2001, 02:08 AM
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?201450