Question
Regarding this disease of collagen biosynthesis as shown in the image,which of the following statements is true?
A. Deficient Hydroxylation secondary to Ascorbate deficiency
B. Mutations in Collagen genes
C. Mutations in collagen genes and Lysyl hydroxylase gene
D. Deficient cross linking secondary to functional copper deficiency
Show Answer
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Correct Answer » C Explanation |
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Ans:C. Mutations in collagen genes and Lysyl hydroxylase gene.
The image of the disorder shown in the image is of Ehlers -Danlos Syndrome.
Disorders of Collagen Biosynthesis
| Disease | Defect | Major Symptoms |
|---|---|---|
| Scurvy | Deficient Hydroxylation secondary to Ascorbate deficiency | Petechiae,Ecchymoses,Loose Teeth,Bleeding gums,Poor wound healing,Poor bone development |
| Osteogenesis Imperfecta | Mutations in Collagen genes | Skeletal Deformities,Fractures,Blue Sclera |
| Ehlers Danlos Syndromes | Mutations in collagen genes and Lysyl hydroxylase gene | Hyperextensible,fragile Skin,Hypermobile Joints,Dislocations,Varicose Veins,Ecchymoses,arterial ,Intestinal ruptures, |
| menkes Disease | Deficient cross linking secondary to functional copper deficiency | Depigmented Hair(Steely),Arterial Totuosity,rupture,Cerebral degeneration.Osteoporosis,Anemia. |