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What is Mucolipidosis type 1?

What is Mucolipidosis type 1?

  • Mucolipidosis type 1: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.

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

Mucolipidosis type 1: Introduction

Types of Mucolipidosis type 1:

Broader types of Mucolipidosis type 1:

How serious is Mucolipidosis type 1?

Complications of Mucolipidosis type 1: see complications of Mucolipidosis type 1

What causes Mucolipidosis type 1?

Causes of Mucolipidosis type 1: see causes of Mucolipidosis type 1

What are the symptoms of Mucolipidosis type 1?

Symptoms of Mucolipidosis type 1: see symptoms of Mucolipidosis type 1

Complications of Mucolipidosis type 1: see complications of Mucolipidosis type 1

Onset of Mucolipidosis type 1: 8-25 years of age

Mucolipidosis type 1: Testing

Diagnostic testing: see tests for Mucolipidosis type 1.

Misdiagnosis: see misdiagnosis and Mucolipidosis type 1.

How is it treated?

Doctors and Medical Specialists for Mucolipidosis type 1: Medical Geneticist ; see also doctors and medical specialists for Mucolipidosis type 1.
Treatments for Mucolipidosis type 1: see treatments for Mucolipidosis type 1

Name and Aliases of Mucolipidosis type 1

Main name of condition: Mucolipidosis type 1

Other names or spellings for Mucolipidosis type 1:

sialidosis type I

Neuroaminidase 1 deficiency, Sialidase deficiency type 1, Sialidosis type 1 Source - Diseases Database

 

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