NEET PG & INI-CET - Pre-Clinical Sciences (Anatomy, Physiology & Biochemistry)

Enzymology, Genetics & Molecular Biology question bank (Medical Biochemistry)

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Q1.

In clinical evaluation regarding urea cycle regulation and enzyme deficiency (Case Vignette #1): Which of the following observations or mechanisms is most accurate?

(A)

All urea cycle disorders are transmitted in an autosomal dominant manner

(B)

Ornithine transcarbamylase (OTC) deficiency is X-linked recessive with elevated orotic acid

(C)

Argininosuccinate synthetase deficiency is X-linked dominant

(D)

Carbamoyl phosphate synthetase I (CPS I) deficiency increases urine orotic acid

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Q2.

In clinical evaluation regarding urea cycle regulation and enzyme deficiency (Case Vignette #3): Which of the following observations or mechanisms is most accurate?

(A)

Carbamoyl phosphate synthetase I (CPS I) deficiency increases urine orotic acid

(B)

Ornithine transcarbamylase (OTC) deficiency is X-linked recessive with elevated orotic acid

(C)

Argininosuccinate synthetase deficiency is X-linked dominant

(D)

All urea cycle disorders are transmitted in an autosomal dominant manner

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Verified Answer & Solution Locked

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