Image Based Question – 67330

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

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Correct Answer » C Explanation

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.