jwf at ZIP.COM.AU
Fri Nov 15 07:59:19 EST 1996
We, and our son's Paediatrician would be grateful of information
concerning the range of symptoms presented by various patients with
mitochondrial disease. The Paediatrician is of the opinion that our
son's symptoms are mostly likely indicative of a mitochondrial
dysfunction. The constellation of symptoms presented, while having
overlap with those presented by the known mitochondrial diseases, as
published in the literature, do not readily suggest a complete agreement
with a known mutation, deletion or duplication.
We live in Sydney, Australia and there is not much known about
mitochondrial disorders in this city. We have contacted researchers in
Melbourne, Australia, however, their work is concerned with the better
known mitochondrial disorders or with the role of mitochondrial mutation
and the ageing process. As they are not researching beyond these areas
of interest at present they could not help us.
Our son's condition is deteriorating and we are anxious to glean as much
information as possible, as soon as possible. His symptoms include:
aminoaciduria, recurrent gastronintestinal and neurological problems.
The onset of problems were at nine months of age. He is now 17 years of
We would be especially interested to know if any other children
suffering from mitochondrial dysfunction were severely intolerant to
chemicals, both inhaled and ingested?
Whether they suffered from severe oral ulceration?
Whether they suffered from intestinal dysmotility, accompanied by
intermittent diarrohoea and severe abdominal pains?
Whether they were found to have generalised aminoaciduria?
Whether they suffered from dystonia in any form?
Whether profound fatigue was a major problem?
Whether fatigue gradually increased to the point where the ability to
weight bear was lost?
We look forward to hearing from anyone who can help us understand our
son's condition or who have information on the above questions.
Please email your reply to: jwf at zip.com.au
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