Refsum Disease (Zellweger spectrum disorders) - Medtick
Medtick

Refsum Disease (Zellweger spectrum disorders)

What is it?

A rare metabolic disorder of fat metabolism that causes an unusual build of fat deposits in throughout the body causing vision problems (because the build of fat cells interfere with the cells that receive light at the back of the eye) and neurological symptoms (because the fat build up presses against the nerves).

Cause

  • Changes or mutations in the PHYH gene and changes or mutations in a gene called PEX7 which cause changes to  peroxisomes,- these enzymes break down phytanic acid.
  • Build up of the fatty acid phytanic acid in cells (Dietary source include beef and dairy products)
  • Family history- Autosomal recessive disorder (Both parents who are carriers of  the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
    • If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting this condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).

Symptoms

  • Loss of night vision?
  • Blurred vision?
  • Affecting outer vision?
  • Muscle weakness and wasting?
  • Poor balance and coordination?
  • Hearing loss?
  • Changes in vision, hearing, taste and smell, touch and sensitivity to cold with  muscle weakness and/or muscle pain?
  • Dry, scaly skin (ichthyosis)?
  • Heart palpitations and/or irregular heartbeats (arrhythmia)?
  • Bone abnormalities on hands and feet?
  • Pain or tingling in your legs, feet, arms, or hands that may feel sharp, stabbing, or burning?
  • Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina, walking difficulties?
  • Hand is less sensitive when touching objects and/or hand weakness and/or difficulty and pain when writing or gripping small objects?
  • Bruising easily?
  • Overactive (urgency to go to toilet) or under active bladder and/or Difficult to start urinating and stop urinating (Strain to urinate due to weak flow)?
  • Noticeable change in bowel motion (passing stools) and/or change in bowel motion greater than three weeks i.e. going to the toilet more often or less than usual?
  • Loss of bowel control – can’t hold going to the toilet to excrete faeces (bowel incontinence)?
  • Loss interest of sex and/or low sex drive?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

This condition can lead to:

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Refsum Disease (Zellweger spectrum disorders) in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

    Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).

  • Medscape

    Latest medical news and expert commentary in your specialty as well as disease information.

  • Pharmaceutical Journal

    The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.

  • Healthline

    Medical Information and health advice you can trust

  • ChatGPT

    Get instant answers, find creative inspiration, and learn something new.

  • Medical News Today

    Medical news and health news headlines posted throughout the day, every day.

  • WebMD

    Better Information. Better Health.

  • Cleveland Clinic

    Pushing the Standards of care.

  • Mayo Clinic

    No.1 Hospital in the Nation (America)

  • Drugs.com

    Know more. Be sure.

  • National Organisation of Rare Diseases

    NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.

  • Verywell Health

    Know more. Fell better.

  • Fit for Travel

    Information on how to stay safe and healthy abroad.

  • DR Axe

    Health and fitness news. Recipes, Natural Remedies

© Medtick - 2024. All Rights Reserved.