Dictionary > Mucolipidosis

Mucolipidosis

Definition
noun
A type of mucopolysaccharides and mucolipids
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 mucolipidosis, a hereditary metabolic disorder caused by a deficiency in the enzyme N-acetylglucosamine-1-phosphotransferase. This enzyme takes part in the metabolism of mucopolysaccharides and mucolipids. The absence of this enzyme or the insufficiency of the production of this enzyme leads to the accumulation of mucopolysaccharides and mucolipids in various tissues. Because of this, it leads to the manifestation of the symptoms characterizing mucolipidosis.
This condition is hereditary and is inherited in autosomal recessive pattern. This means that the child with mucolipidosis has two copies of the defective gene that codes for N-acetylglucosamine-1-phosphotransferase. This enzyme is important in the phosphorylation of carbohydrate residues on N-linked glycoproteins.
There are four types of mucolipidosis: type I (also called sialidosis), type II (also called inclusion-cell disease), type III (also referred to as pseudo-Hurler polydystrophy), and type IV (also called mucolipidin 1 deficiency). Type I, though, is now categorized under glycoproteinosis whereas type IV is now regarded as a type of gangliosidosis.
Abbreviation/Acronym:

  • ML

See also:

  • lysosomal storage disease
  • I-cell disease
  • pseudo-Hurler polydystrophy


    You will also like...

    Homeostasis by water regulation
    Homeostasis of Organism Water Regulation

    Osmoregulation is the regulation of water concentrations in the bloodstream, effectively controlling the amount of water..

    Lights' Effect on Growth
    Lights’ Effect on Growth

    This tutorial elaborates on the effect of light on plant growth. It describes how different plants require different amo..

    kinesin motor proteins transporting molecules across microtubules
    Movement of Molecules Across Cell Membranes

    Molecules move within the cell or from one cell to another through different strategies. Transport may be in the form of..

    Birth of a Human Baby
    Birth of a Human Baby

    Following nine months inside the mother's womb is the birth of the baby. Know the different stages of the birthing proce..

    Types and Causes of Brain Damage
    Types and Causes of Brain Damage

    This tutorial describes the different types and causes of brain damage. Find out how genetics, physical injury, lack of ..

    Plant Water Regulation
    Plant Water Regulation

    Plants need to regulate water in order to stay upright and structurally stable. Find out the different evolutionary adap..