Lysosomal storage disorder Disease

About Gene:

Lysosomal storage disease (LSDs) cause a toxic buildup that damages your body's cells and organs.

Number of Patients: 0

Disease Causing Genes:

NEU1

Sign and Symptoms:

  1. Respiratory distress
  2. Dementia
  3. Blindness
  4. Depression
  5. Muscle weakness
  6. Deafness
  7. Mental retardation

Diagnosis:

(1) Clinical evaluation (2) Analysis of urinary metabolites (3) Bone marrow study (4) Liver biopsy

Preventions:

Treatment:

Presently there are no such treatments or cure available for Lysosomal Storage Disorder. Research is still in process. But a few treatments can help: 1.Enzyme replacement therapy. 2.Substrate reduction therapy. 3.Stem cell transplant.