17 Questions
What is the most common mode of inheritance for Mucopolysaccharidoses?
Autosomal recessive
Which Glycosaminoglycan deficiency can lead to Hurler Syndrome?
Chondroitin Sulfate
Which Glycosaminoglycan is associated with playing an important role in blood coagulation?
Heparin
What is the main cause of Osteogenesis Imperfecta?
Mutation in collagen genes
Which bone disorder is characterized by increased bone density and inability to resorb bone?
Osteopetrosis
What enzyme deficiency leads to Osteopetrosis?
Carbonic anhydrase II
What is the primary function of heparin in the body?
Prevent blood clotting
What is the cardinal principle of collagen biosynthesis?
Self Assembly
Which type of collagen is primarily affected in Ehlers-Danlos Syndrome?
Type III
Which symptom is NOT commonly associated with Ehlers-Danlos Syndrome?
Joint stiffness
In Ehlers-Danlos Syndrome, the defects are related to which aspect of collagen?
Fibril formation
Which genetic disorder is characterized by skin breaking and blistering following trauma?
Epidermolysis Bullosa
Which collagen disorder presents with symptoms of hematuria, ocular lesions, and hearing loss?
Alport Syndrome
'Decreased anchoring fibrils leading to blistering' is associated with which collagen-related disorder?
Epidermolysis Bullosa
What characteristic feature is common in Ehlers-Danlos Syndrome?
Hyperextensibility of the skin
Which vitamin deficiency disease can lead to skin manifestations resembling Ehlers-Danlos Syndrome?
Vitamin C deficiency
Which type of collagen is primarily affected in Marfan Syndrome?
Type III
Test your knowledge about proteoglycans and glycosaminoglycans including structures, functions, and types like hyaluronic acid, chondroitin sulfate, and dermatan sulfate.
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