Genetic Disorders and Biochemical Pathology — Flashcards

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

Canavan disease is an autosomal _____ disorder

Hyperammonemia type 2 occurs due to deficiency of the enzyme _____

LHON is related to a mitochondrial DNA mutation, most frequently at the _____ position

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

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

What kind of odour is seen in Trimethylaminuria?_____

What is the mode of inheritence of Segawa syndrome?_____

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

Transient tyrosinemia of the newborn is seen in premature infants due to the immaturity of _____ enzyme