There are indications that for children with a defect in the CASK gene, the aldose reductase pathway is disturbed. It might be useful for patients with a defect in the CASK gene or a deletion or duplication of the gene to see a doctor specialized in congenital disorders of glycosylation.
More data with actual clinical information can be received at reachmeATmessagebottle.org. (Replace AT by @)