Biochemistry USMLE (Biochemistry)

thrombocytopenia - deficiency of platelets in the blood. This causes bleeding into the tissues, bruising, and slow blood clotting after injury. A 16 year old boy presented to a doctor by his mother for the injury which he had recently during cycle riding. On examination doctor noticed the loose, overly-flexible joints, smooth or stretchy, easily-bruised skin and abnormal wound healing and scar formation. This is the characteristic feature of the disorder known as - Ehlers-Danlos syndrome ...

Achondroplasia involves what defect? – Cell-signaling defect of fibroblast growth factor (FGF) receptor 3 Marfan's syndrome involves a mutation in what? – Fibrillin gene Xanthine, hypoxanthine and uric acid are all what type of base? – Purine What is the rate limiting step in Purine de novo synthesis? – PRPP step via glutamin PRPP amidotranferase PRPP amidotransferase inhibited by what downstream products in purine synthesis? – IMP, GMP, AMP and puring analogs Allopurinola a...

thrombocytopenia - deficiency of platelets in the blood. This causes bleeding into the tissues, bruising, and slow blood clotting after injury. A 16 year old boy presented to a doctor by his mother for the injury which he had recently during cycle riding. On examination doctor noticed the loose, overly-flexible joints, smooth or stretchy, easily-bruised skin and abnormal wound healing and scar formation. This is the characteristic feature of the disorder known as - Ehlers-Danlos syndrome ...