Genetic Disorders and Biochemical Pathology — Flashcards

What is the mode of inheritence of congenital erythropoetic porphyria?_____

What is the mode of inheritence of Behr's syndrome?_____

Fish odor syndrome is also called as _____

Which enzyme deficiency is seen in EDS type VI?_____

The COCH gene, may contribute to Meniere's disease and is located on the long arm (q) of chromosome _____

Bartter's syndrome is associated with _____ PGE2 levels

Harlequin ichthyosis is due to mutations of the _____ genes

Piebaldism is a benign condition, and has mutations in _____.

_____ syndrome is a rare multisystem disorder of copper metabolism with features of both Wilsons and Menkes disease.

In Wilson disease, hepatic copper content usually exceeds _____ g/g dry weight.