What are the symptoms of Salla disease?
What are the symptoms of Salla disease?
SALLA DISEASE Affected infants appear normal at birth, but may develop symptoms during the first year of life. Such symptoms include diminished muscle tone (hypotonia), rapid, involuntary eye movements (nystagmus), and difficulty coordinating voluntary movements (ataxia).
What causes Salla disease?
SD is caused by a mutation in the SLC17A5 gene, located at human chromosome 6q14-15. This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.
How common is Salla disease?
Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people.
What is Salic disease?
Sialic acid storage disease is a rare, inherited disorder that predominantly affects the central nervous system. The symptoms associated with the disease are highly variable between individuals affected, with a broad spectrum of disease severity.
What is Keratolytic action?
Keratolytics are compounds that break down the outer layer of the skin and help it to bind moisture. They are used to treat dry skin conditions such as acne, warts, and psoriasis.
What is the gene for sialin in SASD?
Sialin is a lysosomal membrane protein encoded by the SLC17A5 gene, which is mutated in patients with sialic acid storage diseases (SASD).
What is the role of sialin in normal development?
We discuss the possible role of sialin in normal development and in SASD pathogenesis, as a framework for further investigation of its function in these contexts.
How does Infantile free sialic acid storage disease work?
Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive).
What are the mutations in sialic acid storage disease?
Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. Some of these mutations result in sialin that does not function normally; others prevent sialin from being produced. In a few cases, sialin is produced but not routed properly to the lysosomal membrane.
