Hurler's syndrome

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Thân thiện
Definition
  1. Noun:
    • A genetic disorder: Hurler's syndrome is a specific, inherited disease caused by an error in mucopolysaccharide metabolism. It is an autosomal recessive condition, meaning a child must inherit two copies of the faulty gene (one from each parent) to be affected.
    • A condition with specific physical and cognitive symptoms: The syndrome is characterized by severe developmental abnormalities in skeletal cartilage and bone, leading to distinct physical features, and is associated with intellectual disability.
Usage Examples
  • Noun:
    • The diagnosis of Hurler's syndrome was confirmed through genetic testing.
    • Early intervention is crucial for children with Hurler's syndrome.
    • The research focused on new treatments for the skeletal abnormalities seen in Hurler's syndrome.
Advanced Usage
  • Medical Terminology: In clinical and genetic contexts, "Hurler's syndrome" is often used interchangeably with the more technical term "mucopolysaccharidosis type I (MPS I)" or specifically "MPS I-H" (the severe form).
    • The physician explained that Hurler's syndrome, or MPS I-H, results from a deficiency of the enzyme alpha-L-iduronidase.
Variants and Related Words
  • Hurler syndrome: A common variant spelling that omits the possessive 's'.
    • The textbook chapter on inborn errors of metabolism includes a section on Hurler syndrome.
  • Mucopolysaccharidosis: The broader category of metabolic storage disorders to which Hurler's syndrome belongs.
  • Lysosomal storage disease: An even broader category encompassing disorders like Hurler's syndrome, where substances accumulate within cellular structures called lysosomes.
Synonyms
  • MPS I (Mucopolysaccharidosis type I): The official medical designation.
  • MPS I-H: Denotes the severe, classic "Hurler" phenotype.
  • Alpha-L-iduronidase deficiency: Describes the specific enzymatic cause of the disorder.
Related Terms (Not direct synonyms but closely associated in medical discourse)
  • Hunter syndrome (MPS II): A related but distinct mucopolysaccharidosis.
  • Scheie syndrome (MPS I-S): A milder form of the same enzyme deficiency.
  • Autosomal recessive inheritance: The pattern of genetic transmission for Hurler's syndrome.
Noun
  1. hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

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