Neuraminidase beta-galactosidase deficiency

Introduction: Neuraminidase beta-galactosidase deficiency

Description of Neuraminidase beta-galactosidase deficiency

Neuraminidase beta-galactosidase deficiency (medical condition): 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.

See also:

Goldberg syndrome:
  »Introduction: Goldberg syndrome
  »Symptoms of Goldberg syndrome

Neuraminidase beta-galactosidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Neuraminidase beta-galactosidase deficiency:

• Beta-galactosidase deficiency
• Beta-galactosidase
• Neuraminidase
• Deficiency

Neuraminidase beta-galactosidase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Neuraminidase beta-galactosidase deficiency as a "rare disease".

Source - Orphanet

Neuraminidase beta-galactosidase deficiency as a Disease

Neuraminidase beta-galactosidase deficiency: Another name for Goldberg syndrome (or close medical condition association).
  »Introduction: Goldberg syndrome
  »Symptoms of Goldberg syndrome

Symptoms of Neuraminidase beta-galactosidase deficiency (Goldberg syndrome)

Some of the symptoms of Neuraminidase beta-galactosidase deficiency incude:

• Edema - late infantile form
• Ascites - infantile form
• Enlarged liver - infantile form
• Enlarged spleen - infantile form
• Neurological disorders - infantile form

See full list of 35 symptoms of Neuraminidase beta-galactosidase deficiency (Goldberg syndrome)

Terms associated with Neuraminidase beta-galactosidase deficiency:

Terms Similar to Neuraminidase beta-galactosidase deficiency:

• Cathepsin A, deficiency of
• Galactosialidosis
• Goldberg syndrome
• Lysosomal protective protein, deficiency of
• Protective protein/Cathepsin A deficiency

Source - NIH

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