N-sulfoglucosamine-3-sulfatase

N-sulfoglucosamine-3-sulfatase (also known as SGSH or sulfamidase) is an enzyme that is involved in the degradation of heparan sulfate in lysosomes. This enzyme is encoded by the SGSH gene in humans. Deficiency of this enzyme leads to the lysosomal storage disorder Sanfilippo syndrome type IIIA.

Function

N-sulfoglucosamine-3-sulfatase is a sulfatase that is involved in the stepwise degradation of glycosaminoglycans such as heparan sulfate. These complex molecules are broken down in the lysosomes by a series of enzymes, with N-sulfoglucosamine-3-sulfatase acting at a specific step to remove sulfate groups.

Clinical significance

Deficiency of N-sulfoglucosamine-3-sulfatase leads to the accumulation of heparan sulfate in the lysosomes, which is the underlying cause of Sanfilippo syndrome type IIIA. This is a severe neurodegenerative disorder that presents in early childhood with symptoms such as developmental delay, behavioral problems, and progressive dementia. There is currently no cure for this condition, and treatment is supportive.

Genetics

The SGSH gene is located on the short (p) arm of chromosome 17 at position 13.3. Mutations in this gene lead to a deficiency of N-sulfoglucosamine-3-sulfatase, causing Sanfilippo syndrome type IIIA. This condition is inherited in an autosomal recessive manner, meaning that an individual must have two copies of the mutated gene to develop the disorder.

See also

• Sanfilippo syndrome
• Lysosomal storage disorder
• Sulfatase

References

‎

---

Translate: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, தமிழ், తెలుగు, Urdu, ಕನ್ನಡ, Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, বাংলা
European español, Deutsch, français, Greek, português do Brasil, polski, română, русский, Nederlands, norsk, svenska, suomi, Italian
Middle Eastern & African عربى, Turkish, Persian, Hebrew, Afrikaans, isiZulu, Kiswahili,
Other Bulgarian, Hungarian, Czech, Swedish, മലയാളം, मराठी, ਪੰਜਾਬੀ, ગુજરાતી, Portuguese, Ukrainian