Conduct outside reading on Salla disease. Explain its underlying molecular biology, cause, signs, symptoms and progression of the disease. Address whether any cures have been found. If yes describe them. If no explain why this is the case. Solution Salla disease is a type of allelic disorder which falls under sialic acid storage disease characterized by a delay in development, ataxia, and some dysmorphic features. Additional signs are hypopigmentation of skin and hair, mild skeletal dysplasias, and course facial features.There is an accumulation of the charged monosaccharide sialic acid (N-acetylneuraminic acid) in lysosomes as a result of which sialic acid cannot be transported out of lysosomes.The mode of inheritence is autosomal recessive disease. The diagnosis is dependent upon the raised excretion of sialic acid in urine. Electron microscopic studies of reveal a lot about it. There is actually a homozygous missense mutation in SLC17A5 which codes for the transport protein called sialin. People with salla disease have normal life span but remain differently abled. There is no cure for this disease as its a homozygous missense mutation which is having dual mode of action-either altering the amino acids in translated proteins or else remaining silent. References 1. Gorlin, R,J., Cohen, M,M., & Hennekam, R,C,M. (2001). Syndromes of the head and neck.New York: Oxford university press. 2. Barness, E,G., Barness,L,A., & Farrell, P,M. (2017). Metabolic diseases. Amsterdam:IOS press BV..

1. Conduct outside reading on Salla disease. Explain its underlying molecular biology, cause,
signs, symptoms and progression of the disease. Address whether any cures have been found. If
yes describe them. If no explain why this is the case.
Solution
Salla disease is a type of allelic disorder which falls under sialic acid storage disease
characterized by a delay in development, ataxia, and some dysmorphic features. Additional signs
are hypopigmentation of skin and hair, mild skeletal dysplasias, and course facial features.There
is an accumulation of the charged monosaccharide sialic acid (N-acetylneuraminic acid) in
lysosomes as a result of which sialic acid cannot be transported out of lysosomes.The mode of
inheritence is autosomal recessive disease. The diagnosis is dependent upon the raised excretion
of sialic acid in urine. Electron microscopic studies of reveal a lot about it.
There is actually a homozygous missense mutation in SLC17A5 which codes for the transport
protein called sialin. People with salla disease have normal life span but remain differently abled.
There is no cure for this disease as its a homozygous missense mutation which is having dual
mode of action-either altering the amino acids in translated proteins or else remaining silent.
References
1. Gorlin, R,J., Cohen, M,M., & Hennekam, R,C,M. (2001). Syndromes of the head and
neck.New York: Oxford university press.
2. Barness, E,G., Barness,L,A., & Farrell, P,M. (2017). Metabolic diseases. Amsterdam:IOS
press BV.