Sialuria (9p12-p11)

Reference work entry
DOI: https://doi.org/10.1007/978-1-4020-6754-9_15577

Sialuria is caused by a semidominant/recessive gene defective in the feedback-sensitivity of uridine diphosphate N-acetylglucosamine 2-epimerase enzyme by cytidine monophoshphate-neuroaminic acid. The afflicted have defects in bone (dysostosis and psychomotor [movement and psychic activity]) development and infantile death may occur. Salla disease (6q14-q15) is a sialic acid storage disease with mental and psychomotor retardation.  neuroaminidase deficiency

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