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Diseases » Goldberg syndrome » Summary
 

What is Goldberg syndrome?

What is Goldberg syndrome?

  • Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.

Goldberg syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Goldberg syndrome, or a subtype of Goldberg syndrome, 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 Goldberg syndrome as a "rare disease".
Source - Orphanet

Goldberg syndrome: Introduction

Types of Goldberg syndrome:

Broader types of Goldberg syndrome:

How serious is Goldberg syndrome?

Complications of Goldberg syndrome: see complications of Goldberg syndrome

What causes Goldberg syndrome?

Causes of Goldberg syndrome: see causes of Goldberg syndrome

What are the symptoms of Goldberg syndrome?

Symptoms of Goldberg syndrome: see symptoms of Goldberg syndrome

Complications of Goldberg syndrome: see complications of Goldberg syndrome

How is it treated?

Doctors and Medical Specialists for Goldberg syndrome: Medical Geneticist, Neonatologist, Internist ; see also doctors and medical specialists for Goldberg syndrome.
Treatments for Goldberg syndrome: see treatments for Goldberg syndrome
Research for Goldberg syndrome: see research for Goldberg syndrome

Name and Aliases of Goldberg syndrome

Main name of condition: Goldberg syndrome

Other names or spellings for Goldberg syndrome:

Galactosialidosis, neuraminidase beta-galactosidase deficiency, Neuraminidase deficiency with beta-galactosidase deficiency

Galactosialidosis, Combined neuroaminidase and beta galactosidase deficiency Source - Diseases Database

Lysosomal protective protein, deficiency of, Protective protein/Cathepsin A deficiency, Neuraminidase beta-galactosidase deficiency, Cathepsin A, deficiency of, Galactosialidosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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