peroxisomal diseases

(redirected from Peroxisomal disorder)
Also found in: Wikipedia.

peroxisomal diseases

A range of rare genetic disorders due to the absence of PEROXISOMES or their enzymes. They include Zellweger syndrome, infantile REFSUM'S DISEASE and neonatal adrenoleukodystrophy. They all feature a form of retinal degeneration (retinal dystrophy).
References in periodicals archive ?
2014) A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Following the analytical and clinical validation of the assay using samples from known patients, we began testing clinical samples prospectively with the goal of providing an efficient and cost-effective diagnostic approach to patients who present with signs and/or symptoms that could be caused by deficiencies of one of the LSD enzymes analyzed or by a peroxisomal disorder.
Ross Phillipson has a vital enzyme missing in his blood - a peroxisomal disorder which has left him with a number of complications including blindness and impairment to his hearing.
X-ALD, the most common peroxisomal disorder, causes the breakdown of myelin, a fatty substance that acts as an insulator around nerve fibers.
Refsum's disease: a peroxisomal disorder affecting phytanic acid [alpha]-oxidation.
My 2-year-old daughter has the same symptoms and was diagnosed with a peroxisomal disorder.
It is also useful in patients with normal or equivocally increased VLCFA concentrations who clinically are strongly suspected of having a generalized peroxisomal disorder.
Cholic acid (Cholbam) is indicated for the treatment of bile acid synthesis disorders due to single enzyme defects and for peroxisomal disorders, including Zellweger spectrum disorders.
The bile acid also was approved as adjunctive treatment of peroxisomal disorders including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea, or complications from decreased fat-soluble vitamin absorption.
According to Retrophin, it received the Pediatric PRV when Cholbam was approved by the US Food and Drug Administration for the treatment of pediatric and adult patients suffering from bile acid synthesis disorders due to single enzyme defects, and for patients with peroxisomal disorders, including Zellweger spectrum disorders.
Retrophin received the Pediatric PRV when Cholbam was approved by the US Food and Drug Administration for the treatment of pediatric and adult patients suffering from bile acid synthesis disorders due to single enzyme defects, and for patients with peroxisomal disorders (including Zellweger spectrum disorders).
The current classes of inborn errors of metabolism include disorders of protein metabolism, disorders of carbohydrate metabolism, lysosomal storage disorders, disorders of lipid metabolism, mitochondrial disorders, peroxisomal disorders and trace metal disorders [5].

Full browser ?