sialic acid storage disease/seizures

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NakalaMajaribio ya klinikiHati miliki

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2 matokeo

Urinary sialic acid screening in neurologic disorders.

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Ingia / Ingia

Urine sialic acid was measured in 246 patients evaluated for possible neurodegenerative disorders. Total, free, and bound sialic acid excretion declined significantly with patients' ages. Among 11 patients (4.5%) with age-related excretion rates greater than 2 standard deviations above the mean, 5

The lysosomal sialic acid transporter sialin is required for normal CNS myelination.

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Ingia / Ingia

Salla disease and infantile sialic acid storage disease are autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding sialin, a membrane protein that transports free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation.

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Herbal & Natural Medicine

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