Niemann-Pick Disease – causes, side effects and treatments at NaturalPedia.com

Thursday, May 24, 2018 by

Niemann-Pick disease is a group of inherited metabolic disorders in which harmful quantities of fatty lipids build up in the spleen, liver, lungs, bone marrow, and brain. There are four main types of Niemann-Pick disease based on the mutated gene and the signs and symptoms:

  • Type A – caused by mutations in the SMPD1 gene. It is the most severe form, develops in early infancy, and is seen primarily in Jewish families.

  • Type B – caused by mutations in the SMPD1 gene. Commonly occurs in children, and affects the liver, spleen, and lungs, but generally does not affect the brain.

  • Type C1 – caused by mutations in the NPC1 gene. May occur at any age and affect the brain and the viscera.

  • Type C2 – caused by homozygous mutation in the NPC2 gene. Similar to type C1, but more severe, and primarily affects the lungs.

Known side effects of Niemann-Pick disease

The side effects of Niemann-Pick disease vary. Side effects of Type A Niemann-Pick disease may include:

  • Abdominal swelling within three to six months
  • Cherry red spot at the back of the eye
  • Feeding difficulties
  • Loss of early motor skills, which gets worse over time

Side effects of Type B Niemann-Pick disease may include:

  • Abdominal swelling
  • Repeated respiratory infections

Side effects of Type C and C1 Niemann-Pick disease may include:

  • Difficulty moving limbs that may lead to an unsteady gait, clumsiness, walking problems
  • Enlarged spleen
  • Enlarged liver
  • Jaundice at birth
  • Learning difficulties and cognitive decline
  • Seizures
  • Slurred, irregular speech
  • Sudden loss of muscle tone that may lead to falls
  • Tremors
  • Trouble moving the eyes up and down

Body systems harmed by Niemann-Pick disease

The body systems harmed by Niemann-Pick disease depend on its type. It may harm the digestive, ocular, nervous, respiratory, and excretory systems.

List of foods or nutrients that prevent Niemann-Pick disease

There is no information on what foods or nutrients prevent Niemann-Pick disease.

Treatments, management plans for Niemann-Pick disease

There is no cure for Niemann-Pick disease. Its treatment focuses on reducing the symptoms and delaying the onset of the disease if it is diagnosed early. Treatments include a healthy, low-cholesterol diet, medications, and therapies.

Where to learn more

Summary

Niemann-Pick disease is a group of inherited metabolic disorders in which harmful quantities of fatty lipids build up in the spleen, liver, lungs, bone marrow, and brain.

Niemann-Pick disease causes various side effects, depending on its type.

Niemann-Pick disease may harm the digestive, ocular, nervous, respiratory, and excretory systems.

Sources include:

RareDiseases.Info.NIH.gov

MedlinePlus.gov

Wellness.com



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