Summary:
A series of Organix reports shows the nature of this genetic abnormality as numerous, severe, and persistent metabolic disturbances.

Prader-Willi Syndrome

K91 Urine Organix Profile
K91 Urine Organix Profile
K91 Urine Organix Profile
K91 Urine Organix Profile
K91 Urine Organix Profile

2

M

9/25/2003

History The child has been diagnosed with Prader-Willi syndrome. The follwing is copied from: http://www.pwsausa.org/syndrome/index.htm A disorder of chromosome 15 Prevalence: 1:12,000- 15,000 (both sexes, all races) Major characteristics: hypotonia, hypogonadism, hyperphagia, cognitive impairment, difficult behaviors Major medical concern: morbid obesity Description of Results Organic acids in urine were tested in July, 2002 and March, July, and August, 2003. Gross elevatinos were found for almost every one of the organic acids measured, and most of the abnormalities were persistent over all four specimens. A major method change was implemented for the testing between the first and second specimens, so reference ranges shifted. However, the occurences and relative degrees of abnormalities can be tracked across all reports. One of the most profound abnormalities was the extreme ammonia challenge seen on the first test. Citrate, and isocitrate were near their quantitation limits, and orotate was extremely elevated. Ammonia toxicity manifestations in the first year of life might impair development by enzyme poisoning and acid-base disturbances. One area of steadily worseneing status across all four reports is the excretion of neurotransmitter catabolic products. Epinephrine, norepinephrine, dopamine, and serotonin turnover rates seem to be steadily increasing. January, 2005 update: The patient is now 3 years old and he is progressing very well. Though he still has some hypotonia, he is now running and he displays no mental retardation! Many of the organic acidurias are showing significant moderating effects, especially those involving energy pathways, mitrochondrial function, and micronutrient sufficiency. His excretion of catecholamine catabolites and glutathione-related markers continues to increase and the levels of bacterial and yeast metabolites is somewhat higher. Recommendations This is the first time that such a disorder has been tracked with the sensitive detection capabilities of urinary organic acid profiling that has been calibrated to reveal variations in normal physiological ranges. The clinician's intent is to continue to document the progression and to report the results to the medical and scientific community. Other Comments In addition to the metabolic consequences due to genetic expression in this case, there is a significant complication of microbial overgrowth. Even in the first data set at 11 months old, we find every intestinal bacterial and yeast marker at extremely high levels. This situation seems to improve on the second testing, but then it worsens again. The invasive-stage yeast marker, D-arabinitol, was added to the profile for the third specimen. The most recent test shows this compound extremely elevated. Regarding the January 2005 retesting, it is very encouraging to see the primary area of deficit in this genetic disorder begin to respond as shown by the moderation of carnitine and coenzyme Q10 insufficiency markers. The use of amino acid supplements as part of the metabolic support program may be contributing to the ongoing signs of ammonia loading, intestinal dysbiosis, and catecholamine turnover. The improving clinical picture is evidence that the major metabolic issue has been addressed succesfully.

Lab Data Figure . Prader-Willi 01 OAU.gif Figure . Prader-Willi 01b OAU.gif Figure . Prader-Willi 02 OAU.gif Figure . Prader-Willi 02b OAU.gif Figure . Prader-Willi 03 OAU.gif Figure . Prader-Willi 03b OAU.gif Figure . Prader-Willi 04 OAU.gif Figure . Prader-Willi 04b OAU.gif