Genetic Disorders and Biochemical Pathology — Flashcards

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

Hyperammonemia type 2 occurs due to deficiency of the enzyme _____

Which adrenal enzymes are deficient in Antley-Bixler syndrome?_____

_____ deficiency is the most common inborn error of folate metabolism

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

What kind of odour is seen in Trimethylaminuria?_____

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

What is the mode of inheritance 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