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CYP1A2 - CAEFFINE TOXICITY

Jonathan Wilson-Fuller jwf at ZIP.COM.AU
Thu Nov 12 01:22:20 EST 1998


OPINIONS - COMMENTS REQESTED PLEASE

I am working as a research assistant with a group of researchers from the
University of Newcastle and the University of Sydney in Australia.  This
combined group is investigating the medical condition of a 19 year old
youth with an, as yet, undiagnosed condition.

We have a research workshop on 19th November to discuss results and define
the direction of future research.   We would very much appreciate expert
opinion on the results from a salivary caffeine clearance test that was
recently conducted on this patient.  The results are as follows:

Salivary Caffeine (2 hour sample)          18.4 umol/L
Salivary Caffeine (14 hour sample)         11.0 umol/L
Low caffeine clearance 0.42 mls/min/kg   -    (normal range 0.70 - 1.80)
High Caffeine half-life   16.3 hours          -       (normal range 4.5 - 8.5)

The doze administered was 200mg and the patient's response was one of toxicity.

We have been unable to source expert help in the interrupting of the
results of this test.  We need to establish the metabolic pathways used in
the caffeine clearance and the approximate prevalence of a defect in this
pathway.  Any thoughts, lateral or otherwise, which may throw some light on
these results will be very much appreciated.

In order to give you some background to the case involved I am sending the
following very brief medical profile - if you would like any further
information we will provide it.  There are unusual and significant
abnormalities in urine excretion and plasma amino acids and lipids.

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MEDICAL PROFILE

DOB: 18th July, 1979

Clinically he presents with a multi-system constellation of symptoms, the
problems being related to high energy using functions within those systems.
The onset of symptoms was early - before 9 months of age.
The history of symptom presentation is consistent and the trend degenerative.

Constellation of symptoms:
1.  Gastrointestinal problems
-  Thriving until removed from the breast at 4 months of age (weight 90th
percentile)
-  Commencing at 9 months gastrointestinal problems lead to absolute weight
lost.
-  By 18 months weight fallen to 10th percentile and by 5 years to 3rd
percentile.
-  These problems include bouts of extreme abdominal pain - as in pseudo-
          obstruction, extreme nausea, regurgitation, excessive gas,
intermittent
          diarrhoea and numerous mouth ulcers - not viral in origin
-  Resultant failure to thrive and low BMI despite more than adequate
calorific intake

2. Neurological problems
-  Commencing with abnormally low core temperature and unconscious turns at
           19 months of age
-  Paroxysmal non kinesigenic dystonia commencing at 5.5 years in his right
hand
           and gradually progressing to a generalised form
-  Intermittent double vision commencing at 5.5 years but this is not
progressing
-  Intermittent complaint of black border to his peripheral visual field

3.  Profound exhaustion and exercise intolerance - inability to weight bear
because of lack of energy.  This has been progressive over years

4.  Severe chemical intolerance to a wide range of ingested and inhaled
compounds.
-  Diagnosed 3.5 years
-  No known chemical exposure to trigger condition
-  Environmentally most reactive to combustion products (e.g. wood smoke)

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Hoping you will give us your opinions on this case,

PLEASE EMAIL ANY COMMENTS DIRECT TO US:   jwf at zip.com.au

Thanks, in anticipation,
Yours sincerely,
Yvonne Wilson-Fuller

Email:  jwf at zip.com.au

Sydney
Australia





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