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What is N-acetyl-alpha-glucosaminidase sulfamidase deficiency?

What is N-acetyl-alpha-glucosaminidase sulfamidase deficiency?

  • N-acetyl-alpha-glucosaminidase sulfamidase deficiency: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase sulfamidase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list N-acetyl-alpha-glucosaminidase sulfamidase deficiency as a "rare disease".
Source - Orphanet

N-acetyl-alpha-glucosaminidase sulfamidase deficiency: Introduction

Types of N-acetyl-alpha-glucosaminidase sulfamidase deficiency:

Broader types of N-acetyl-alpha-glucosaminidase sulfamidase deficiency:

What causes N-acetyl-alpha-glucosaminidase sulfamidase deficiency?

Causes of N-acetyl-alpha-glucosaminidase sulfamidase deficiency: see causes of N-acetyl-alpha-glucosaminidase sulfamidase deficiency

What are the symptoms of N-acetyl-alpha-glucosaminidase sulfamidase deficiency?

Symptoms of N-acetyl-alpha-glucosaminidase sulfamidase deficiency: see symptoms of N-acetyl-alpha-glucosaminidase sulfamidase deficiency

N-acetyl-alpha-glucosaminidase sulfamidase deficiency: Testing

Misdiagnosis: see misdiagnosis and N-acetyl-alpha-glucosaminidase sulfamidase deficiency.

How is it treated?

Treatments for N-acetyl-alpha-glucosaminidase sulfamidase deficiency: see treatments for N-acetyl-alpha-glucosaminidase sulfamidase deficiency

Name of N-acetyl-alpha-glucosaminidase sulfamidase deficiency

Main name of condition: N-acetyl-alpha-glucosaminidase sulfamidase deficiency

 

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