Adsl Deficiency Awareness and Research

Adsl Deficiency Awareness and Research A chance to raise awareness of this Rare Disease and an open invite for those that have been touched repetitive behaviours and temper tantrums.

Adsl Deficiency is a rare inherited disease of the Purine Metabolism. It effects patients both biochemically and behaviourally, the symptoms are variable and include psychomotor retardation, Hypotonia, Seizures, Cortical Visual Impairment and Autistic features i.e. The disease can be detected through a Braxton Marshall urine test and there is now an antenatal screening available. At present there

is no known cure or treatment and there is very little information out there about the disease. We have started this page to share our journey and to connect with other families that have shared their life with the disease. Please feel free to send me a message with your email address to be invited into our closed FB group.

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Bendigo, VIC
3550

Telephone

+61411375378

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