Genetic Disorders and Biochemical Pathology — Flashcards

_____ deficiency is the most common inborn error of folate metabolism

Canavan disease is an autosomal _____ disorder

Congenital X-linked nephrogenic diabetes insipidus (NDI) results from inactivating mutations of which gene?_____

Hyperammonemia type 2 occurs due to deficiency of the enzyme _____

Hemophilia A and B mostly affect males, but rarely can affect females due to _____

What is the mode of inheritance of Segawa syndrome?

What kind of odour is seen in Trimethylaminuria?_____

Several genes have been implicated in congenital glaucoma, prominently _____.

Under Wood's lamp examination, urine, feces and blister fluid of porphyria show a _____ fluorescence

CADASIL is caused by mutations in the _____ gene, which lead to the misfolding of the extracellular domain of the receptor, preferentially expressed in vascular smooth muscle