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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Gaucher disease.

Aabha Nagral1

  • 1Department of Gastroenterology, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India.

Journal of Clinical and Experimental Hepatology
|March 11, 2015
PubMed
Summary
This summary is machine-generated.

Gaucher disease, a common lysosomal storage disorder, requires consideration for unexplained enlarged spleen and liver with low blood counts. Enzyme replacement therapy (ERT) is the standard of care, significantly improving outcomes for most patients.

Keywords:
ACE, angiotensin converting enzymeDEXA, dual energy X-ray absorptiometryEEG, electroencephalographyERT, enzyme replacement therapyGBA, acid beta-glucosidase/glucocerebrosidaseGD, Gaucher diseaseGD1, Gaucher disease type 1GD2, Gaucher disease type 2GD3, Gaucher disease type 3ICGC, International Collaborative Gaucher GroupINCAP, India Charitable Access ProgrammeIQ, intelligence quotientLSD, lysosomal storage disordersMRI, magnetic resonance imagingSF-36, short form 36TRAP, tartarate resistant acid phosphataseUSG, ultrasonographyenzyme replacement therapyglucocerebrosidaselysosomal storage disordersplenomegalythrombocytopenia

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Area of Science:

  • Genetics and rare diseases
  • Biochemistry and metabolic disorders
  • Pediatrics and internal medicine

Background:

  • Gaucher disease is the most prevalent lysosomal storage disease globally and in India.
  • It presents with splenohepatomegaly and cytopenia, categorized into three types: non-neuronopathic (Type 1) and neuronopathic (Type 2 and 3).
  • Type 2 is a severe neuronopathic form with early mortality.

Purpose of the Study:

  • To review the diagnostic approaches and management strategies for Gaucher disease.
  • To highlight the efficacy and limitations of enzyme replacement therapy (ERT).
  • To discuss the role of other treatments and the challenges in accessing care in India.

Main Methods:

  • Diagnosis relies on glucocerebrosidase enzyme assay; molecular studies aid confirmation and prognosis.
  • Management focuses on enzyme replacement therapy (ERT) as the standard of care.
  • Monitoring involves clinical evaluation, blood counts, organ size assessment, and biomarker analysis.

Main Results:

  • ERT has revolutionized prognosis, particularly for Type 1 Gaucher disease, resolving key symptoms.
  • ERT is ineffective for Type 2 disease and offers only supportive care for neurological symptoms in Type 3.
  • Splenectomy is generally contraindicated due to potential worsening of complications.

Conclusions:

  • Gaucher disease diagnosis should be considered in patients with unexplained splenohepatomegaly and cytopenia.
  • Enzyme replacement therapy (ERT) is the cornerstone of treatment, with significant benefits observed in Type 1.
  • Access to expensive ERT in India remains a challenge, necessitating government facilitation for this potentially curable disease.