niemann-pick disease Synonyms

No Synonyms and anytonyms found

niemann-pick disease Meaning

Wordnet

niemann-pick disease (n)

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

niemann-pick disease Sentence Examples

  1. Niemann-Pick disease is a rare genetic disorder that affects the body's ability to metabolize cholesterol and other lipids.
  2. There are two main types of Niemann-Pick disease, type A and type B, with each having distinct genetic mutations.
  3. Type A Niemann-Pick disease is the most severe form, typically manifesting in infants and leading to death by early childhood.
  4. Type B Niemann-Pick disease is less severe, often presenting in childhood or adolescence and having a slower progression.
  5. Niemann-Pick disease is caused by mutations in genes that encode proteins essential for lipid metabolism.
  6. Lipid accumulation in organs and tissues, particularly in the liver, spleen, and brain, is a hallmark of Niemann-Pick disease.
  7. Enlargement of the liver and spleen (hepatosplenomegaly) is a common clinical manifestation of Niemann-Pick disease.
  8. Neurological complications, including intellectual disability, seizures, and movement disorders, can occur in Niemann-Pick disease.
  9. Treatment options for Niemann-Pick disease are limited and primarily focus on managing symptoms and slowing disease progression.
  10. Research into gene therapy and enzyme replacement therapy holds promise for potential treatments of Niemann-Pick disease.

FAQs About the word niemann-pick disease

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

No synonyms found.

No antonyms found.

Niemann-Pick disease is a rare genetic disorder that affects the body's ability to metabolize cholesterol and other lipids.

There are two main types of Niemann-Pick disease, type A and type B, with each having distinct genetic mutations.

Type A Niemann-Pick disease is the most severe form, typically manifesting in infants and leading to death by early childhood.

Type B Niemann-Pick disease is less severe, often presenting in childhood or adolescence and having a slower progression.