Dictionary > Austin disease

Austin disease

Definition
noun
A type of lysosomal storage disease that is often caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, resulting in the accumulation of lipids and mucopolysaccharides inside the lysosomes
Supplement
Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is Austin disease (also known as multiple sulfatase deficiency).
Austin disease is one of the many forms of lysosomal storage disease caused by a defective gene involved in the production of sulfatase enzymes. In humans, the SUMF1 gene codes for the formylglycine generating enzyme (FGE). A pathologic mutation in SUMF1 gene results in the deficiency of the FGE. This enzyme is important in activating sulfatases. The sulfatases are lysosomal enzymes that break down complex sulphate-containing carbohydrates from lipids and mucopolysaccharides in the lysosomes. Without a functional FGE, lipids and mucopolysaccharides accumulate within the lysosome. This, in turn, results in symptoms manifested in Austin disease. The common symptoms include ichthyosis, hepatosplenomegaly, abnormality in peripheral nerve conduction, developmental regression, mental deficiency, mucopolysacchariduria, low muscle tone, neurologic deterioration, and visual impairment.
Austin disease is inherited in an autosomal recessive pattern. This means that the individual manifesting the symptoms of Austin disease has two copies of the defective gene.
Synonym(s):

  • mucosulfatidosis
  • multiple sulfatase deficiency

See also:

  • lysosomal storage disease


  • You will also like...

    Plant Auxins
    Plant Auxins – Phototropism & Geotropism

    Plants produce hormones to regulate their growth. Auxins, for instance, influence plant growth. Know the role of auxin i..

    vitamins
    A Balanced Vitamin Diet – Vitamins A – K

    A balanced diet is essential to a healthy organism. Insufficiency or too much of a particular element or compound, such ..

    Regulation of Biological Systems
    Regulation of Biological Systems

    Regulation of Biological Systems tutorials are focused on the modulation of biological systems from cell to population l..

    Biological Cell Defense
    Biological Cell Defense

    Organisms employ different strategies to boost its defenses against antigens. Humans have an immune system to combat pat..

    squirrel
    Animal Water Regulation

    Animals adapt to their environment in aspects of anatomy, physiology, and behavior. This tutorial will help you understa..

    "Cronopio dentiacutus", a prehistoric mammal (an illustration)
    Mammalian Ancestors

    Mammals are a diverse group of organisms, where most of them develop their offspring within the uterus of the mother. Ov..

    Related Articles...

    No related articles found

    See all Related Topics