Gargoylism (Noun)
Meaning
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.
Classification
Nouns denoting natural processes.
Examples
- Hurler syndrome is caused by a deficiency in alpha-L-iduronidase and is often referred to as gargoylism due to its distinctive facial features and skeletal abnormalities.
- Gargoylism is an autosomal recessive disorder that affects one in every 100,000 births, often resulting in life-threatening complications if left untreated.
- Children with gargoylism typically experience severe developmental delays, resulting in stunted growth, diminished cognitive function, and an array of physical deformities.
- The lack of enzyme activity in gargoylism prevents the body from breaking down certain sugars, ultimately leading to a buildup of toxins that wreak havoc on skeletal and nervous system development.
- Due to the rarity and complexity of gargoylism, patients often require a multidisciplinary approach to management, combining genetic counseling with extensive medical and occupational therapy.