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Galactosamine-6-sulfatase deficiency

Overview

Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA), also known as GALNS, is a human gene. This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorde

Symptoms - Galactosamine-6-sulfatase deficiency

* Severe skeletal symptoms * Short trunk * Prominent sternum * Short neck * Growth retardation

Causes - Galactosamine-6-sulfatase deficiency

* Alpha-mannosidosis type II * Aspartylglycosaminuria * Battaglia Neri syndrome * Borjeson Syndrome * Chromosome 6q deletion syndrome

Prevention - Galactosamine-6-sulfatase deficiency

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Diagnosis - Galactosamine-6-sulfatase deficiency

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Prognosis - Galactosamine-6-sulfatase deficiency

Not supplied.

Treatment - Galactosamine-6-sulfatase deficiency

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Resources - Galactosamine-6-sulfatase deficiency

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