Hurler's disease
Noun: A rare, inherited metabolic disorder (autosomal recessive) caused by a deficiency of an enzyme needed to break down complex sugar molecules called mucopolysaccharides. This leads to the abnormal accumulation of these substances in cells, resulting in severe developmental abnormalities of the skeletal system (cartilage and bone) and intellectual disability.
This is a highly specific medical term. It is used in clinical, genetic, and academic contexts to refer to this particular form of mucopolysaccharidosis (MPS). It is not used in everyday conversation.
- The pediatrician referred the child to a geneticist due to suspected Hurler's disease.
- Early diagnosis of Hurler's disease is crucial for considering treatment options like enzyme replacement therapy or bone marrow transplantation.
- The research focused on understanding the genetic mutations responsible for Hurler's disease.
- The term is often used within the broader classification of mucopolysaccharidosis type I (MPS I), with "Hurler syndrome" representing the most severe form.
- In medical literature, you may see it discussed in the context of lysosomal storage diseases.
- Hurler syndrome: The more common clinical name for the same condition.
- Mucopolysaccharidosis type I (MPS I): The official biochemical and genetic classification that encompasses Hurler's disease.
- Gargoylism: An outdated and now considered pejorative historical term for the physical features associated with the disease.
- Hurler syndrome
- Mucopolysaccharidosis IH (MPS IH)
- Severe MPS I
While "Hurler's disease" is a specific term, it is part of a spectrum. Scheie syndrome and Hurler-Scheie syndrome are related but less severe forms of MPS I, with differing clinical presentations. "Hurler's disease" specifically denotes the classic, severe phenotype.
- 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