Dictionary > Hyperpipecolatemia


A metabolic disorder involving a mutation in PHYH gene, and an increase in the serum concentrations of pipecolic acid
Hyperpipecolatemia is a metabolic disorder caused by a dysfunctional peroxisome. Thus, it is one of the many types of peroxisomal disorder. Hyperpipecolatemia is a metabolic disorder caused by a mutation in the PHYH gene. In humans, this gene codes for phytanoyl-CoA hydroxylase, i.e. an enzyme essential for the alpha-oxidation of branched chain fatty acids (e.g. phytanic acid) within the lysosomes. Thus, hyperpipecolatemia may be associated with other peroxisomal disorders, such as Refsum disease and Zellweger syndrome.
Hyperpipecolatemia is characterized by the presence of pipecolic acid in excess. Pipecolic acid is an organic molecule and a carboxylic acid of piperidine. An increase of this molecule in the blood may lead to hepatomegaly, neuropathty, and progressive, generalised demyelination of the nervous system.
The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.

  • hyperpipecolic acidemia
  • pipecolic acidemia

See also:

  • peroxisomal disorder
  • peroxisome

  • You will also like...

    human brain structure
    The Conscious & Unconscious Nervous System

    This tutorial elaborates on how the nervous system works, particularly at the tissue level of the brain. There are three..

    Evolution of Life - Ancient Earth
    Evolution of Life – Ancient Earth

    Autotrophs flourished, absorbing carbon and light. Soon after, primitive life forms that could assimilate oxygen thrived..

    An artistic depiction of Dunkleosteus fish

    The sea was teeming with life. Eventually, through reproduction and continued variation, fish came about. There are over..

    Young plant growing from the soil.

    Nutrients in the soil are essential to the proper growth of a land plant. This tutorial deals with the properties of soi..

    green plant cells
    Plant Cells vs. Animal Cells

    Plant cells have plastids essential in photosynthesis. They also have an additional layer called cell wall on their cell..

    Angle Oak Tree
    Seed Plants

    Seed plants are vascular plants. They differ from the other vascular plants in producing seeds that germinate into a new..