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
- 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.
- Niemann-Pick disease is caused by mutations in genes that encode proteins essential for lipid metabolism.
- Lipid accumulation in organs and tissues, particularly in the liver, spleen, and brain, is a hallmark of Niemann-Pick disease.
- Enlargement of the liver and spleen (hepatosplenomegaly) is a common clinical manifestation of Niemann-Pick disease.
- Neurological complications, including intellectual disability, seizures, and movement disorders, can occur in Niemann-Pick disease.
- Treatment options for Niemann-Pick disease are limited and primarily focus on managing symptoms and slowing disease progression.
- 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.