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What is Mucolipidosis type 4?

What is Mucolipidosis type 4?

  • Mucolipidosis type 4: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (ganglioside and mucopolysaccharide) in body tissues due to the deficiency of an enzyme needed to process it.

Mucolipidosis type 4 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Mucolipidosis type 4, or a subtype of Mucolipidosis type 4, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Mucolipidosis type 4 as a "rare disease".
Source - Orphanet

Mucolipidosis type 4: Introduction

Types of Mucolipidosis type 4:

Broader types of Mucolipidosis type 4:

What causes Mucolipidosis type 4?

Causes of Mucolipidosis type 4: see causes of Mucolipidosis type 4

What are the symptoms of Mucolipidosis type 4?

Symptoms of Mucolipidosis type 4: see symptoms of Mucolipidosis type 4

Can anyone else get Mucolipidosis type 4?

More information: see contagiousness of Mucolipidosis type 4
Inheritance: see inheritance of Mucolipidosis type 4

Mucolipidosis type 4: Testing

Diagnostic testing: see tests for Mucolipidosis type 4.

Misdiagnosis: see misdiagnosis and Mucolipidosis type 4.

How is it treated?

Doctors and Medical Specialists for Mucolipidosis type 4: Medical Geneticist ; see also doctors and medical specialists for Mucolipidosis type 4.
Treatments for Mucolipidosis type 4: see treatments for Mucolipidosis type 4

Name and Aliases of Mucolipidosis type 4

Main name of condition: Mucolipidosis type 4

Other names or spellings for Mucolipidosis type 4:

Berman syndrome, Ganglioside neuraminidase deficiency, Ganglioside sialidase deficiency, ML IV, ML has Disorder IV
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Mucolipidosis type 4: Related Conditions

Research the causes of these diseases that are similar to, or related to, Mucolipidosis type 4:

 

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