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What is Aspartylglucosaminidase deficiency?

What is Aspartylglucosaminidase deficiency?

  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.

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

Aspartylglucosaminidase deficiency: Introduction

Types of Aspartylglucosaminidase deficiency:

Broader types of Aspartylglucosaminidase deficiency:

Who gets Aspartylglucosaminidase deficiency?

Racial predominance for Aspartylglucosaminidase deficiency: Mainly in Finland

How serious is Aspartylglucosaminidase deficiency?

Prognosis of Aspartylglucosaminidase deficiency: Patients tend to survive until mid-adulthood. Mental retardation and disability may be severe by this stage.
Complications of Aspartylglucosaminidase deficiency: see complications of Aspartylglucosaminidase deficiency

What causes Aspartylglucosaminidase deficiency?

Causes of Aspartylglucosaminidase deficiency: see causes of Aspartylglucosaminidase deficiency

What are the symptoms of Aspartylglucosaminidase deficiency?

Symptoms of Aspartylglucosaminidase deficiency: see symptoms of Aspartylglucosaminidase deficiency

Complications of Aspartylglucosaminidase deficiency: see complications of Aspartylglucosaminidase deficiency

Onset of Aspartylglucosaminidase deficiency: early childhood

Can anyone else get Aspartylglucosaminidase deficiency?

Inheritance: see inheritance of Aspartylglucosaminidase deficiency

Aspartylglucosaminidase deficiency: Testing

Misdiagnosis: see misdiagnosis and Aspartylglucosaminidase deficiency.

How is it treated?

Treatments for Aspartylglucosaminidase deficiency: see treatments for Aspartylglucosaminidase deficiency

Name of Aspartylglucosaminidase deficiency

Main name of condition: Aspartylglucosaminidase deficiency

 

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