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Diseases » Fucosidosis type 1 » Summary
 

What is Fucosidosis type 1?

What is Fucosidosis type 1?

  • Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.

Fucosidosis type 1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Fucosidosis type 1, or a subtype of Fucosidosis type 1, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Fucosidosis type 1: Introduction

Types of Fucosidosis type 1:

Broader types of Fucosidosis type 1:

How serious is Fucosidosis type 1?

Complications of Fucosidosis type 1: see complications of Fucosidosis type 1

What causes Fucosidosis type 1?

Causes of Fucosidosis type 1: see causes of Fucosidosis type 1

What are the symptoms of Fucosidosis type 1?

Symptoms of Fucosidosis type 1: see symptoms of Fucosidosis type 1

Complications of Fucosidosis type 1: see complications of Fucosidosis type 1

Can anyone else get Fucosidosis type 1?

More information: see contagiousness of Fucosidosis type 1
Inheritance: see inheritance of Fucosidosis type 1

How is it treated?

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

Name and Aliases of Fucosidosis type 1

Main name of condition: Fucosidosis type 1

Other names or spellings for Fucosidosis type 1:

Infantile fucosidosis, Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia

Infantile fucosidosis, Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Fucosidosis type 1: Related Conditions

Research the causes of these diseases that are similar to, or related to, Fucosidosis type 1:

 

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