USLME Step 1 Cases - Biochemistry Exam With Questions And Accurate Answers

USLME Step 1 Cases - Biochemistry Exam With Questions And Accurate Answers Alkaptonuria --------------- tyrosine - Answer ____ is characterized by the absence of *homogentisate o xidase*, and enzyme in the ____ degradation pathway that catalyzes the conversion of homogentisate to maleylacetoacetate. arthritis --------- sclerae - Answer In alkaptonuria, the accumulation of homoge ntisate in cartilage leads to ____ and causes discoloration of ____ and other body tissues. Homogentisate is a metabolite of *phenylalanine* - Answer The metabol ite that accumulates in Alkaptonuria is derived from which essential amino acid? There are no known ways to prevent the build-up of homogentis ate. Dietary restriction of tyrosine and phenylalanine reduces the production of hom ogentisate, but this approach has demonstrated no benefit on the overall conditio n. - Answer What is the treatment for Alkaptonuri a? Leucine and lysine - Answer Which amino acids are exclusively ketogen ic? homogentisate oxidase -------------------- homogentisate - Answer Alkaptonuria is characterized by the absenc e of ____ , and enzyme in the tyrosine degradation pathway that catalyzes the c onversion of ____ to maleylacetoacetate. Ataxia Telangiectasia - Answer ____ is an autosomal recessive condition caus ed by a defect in the ATM gene. balance or other cerebellar functions, recurrent respirator y infections due to IgA deficiency and a defect in T-cell immunity - Answer Ataxia Telangiect asia is characterized by a constellation of symptoms including difficu lties with ____, ____, and ____ . spider angioma - Answer Patients with Ataxia Telangiectasia hav e a distinctive ____ termed telangiectasia.