Enzyme replacement therapy is given successfully in

Discussion in 'AIIMS Nov 2013' started by samuel, Dec 10, 2014.

  1. samuel

    samuel New Member

    Enzyme replacement therapy is given successfully in
    a) Fabry’s disease
    b) Gaucher disease
    c) Sanfilippo syndrome
    d) Pompe disease

    Answer: Gaucher disease

    Explanation:
    Gaucher disease:
    Gaucher disease is a lipid storage disease
    characterized by the deposition of
    glucocerebroside in cells of the macrophage-
    monocyte system.
    The disorder results from the deficiency of a
    specific lysosomal hydrolase,
    glucocerebrosidase.
    Enzyme replacement therapy (ERT) for type 1
    Gaucher disease is now available. Most
    patients receive the recombinant enzyme. This
    preparation is highly effective in reversing the
    visceral and hematologic manifestations of
    Gaucher disease.
    Fabry disease:
    Fabry disease is an X-linked lysosomal
    disorder that leads to excessive deposition of
    neutral glycosphingolipids in the vascular
    endothelium of several organs and in epithelial
    and smooth muscle cells.
    Deficiency of alpha-galactosidase-A activity
    leads to lysosomal accumulation of
    glycosphingolipids, predominantly the
    cerebroside trihexosides.
    Two enzymes, agalsidase-alpha and
    agalsidase-beta reportedly help in normalizing
    renal function, cardiac function, and cerebro-
    vascular flow.
    Pompe disease:
    In some glycogen storage disorders, clinical
    trials have successfully used treatment
    involving replacement of the enzymes that are
    deficient or not working normally. For example,
    in glycogen storage disorder type II (Pompe
    disease), this treatment has been shown to
    help reverse the heart problems and muscle
    weakness that can occur.
    For the infantile form of Pompe disease, a
    recombinant enzyme replacement was
    approved by the FDA.
    Sanfilippo syndrome:
    Sanfilippo syndrome or Mucopolysaccharidosis
    III (MPS-III) is a rare autosomal recessive
    lysosomal storage disease.
    It is caused by a deficiency in one of the
    enzymes needed to break down the
    glycosaminoglycan heparan sulfate (which is
    found in the extra-cellular matrix and on cell
    surface glyco-proteins).
    No treatment for the underlying cause is
    available. Medical treatment is supportive and
    is directed toward improving the patient’s
    quality of life.

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