• Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome. (medlineplus.gov)
  • 5 Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, United Kingdom. (nih.gov)
  • Combining genetic and biochemical testing to deliver a quick and highly accurate multiomic diagnosis of rare metabolic disorders. (centogene.com)
  • Inherited metabolic disorders (IMDs) are life-long conditions and patients have a wide range of symptoms and needs. (centogene.com)
  • The content and design of the panel is based on our continuously enhanced medical expertise and knowledge of rare metabolic disorders, including the latest medical and in-house findings. (centogene.com)
  • Individuals with severe Zellweger spectrum disorder usually have signs and symptoms at birth, which worsen over time. (medlineplus.gov)
  • The signs and symptoms of severe Zellweger spectrum disorder are due to the absence of functional peroxisomes within cells. (medlineplus.gov)
  • Cases of Zellweger spectrum disorder are often categorizes as severe, intermediate, or mild. (medlineplus.gov)
  • Children with severe Zellweger spectrum disorder also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys, and their liver or spleen may be enlarged. (medlineplus.gov)
  • Children with severe Zellweger spectrum disorder typically do not survive beyond the first year of life. (medlineplus.gov)
  • People with intermediate or mild Zellweger spectrum disorder have more variable features that progress more slowly than those with the severe form. (medlineplus.gov)
  • The severe, intermediate, and mild forms of Zellweger spectrum disorder were once thought to be distinct disorders. (medlineplus.gov)
  • Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. (nih.gov)
  • 2 Medical Research Council (MRC) Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom. (nih.gov)