Neuraminidase deficiency with beta-galactosidase deficiency

Introduction: Neuraminidase deficiency with beta-galactosidase deficiency

Description of Neuraminidase deficiency with beta-galactosidase deficiency

Neuraminidase deficiency with 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 deficiency with beta-galactosidase deficiency: Related Topics

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

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

Neuraminidase deficiency with beta-galactosidase deficiency as a Disease

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

Symptoms of Neuraminidase deficiency with beta-galactosidase deficiency (Goldberg syndrome)

Some of the symptoms of Neuraminidase deficiency with 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 deficiency with beta-galactosidase deficiency (Goldberg syndrome)

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