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Nutrition and Dietetics for Urea Cycle Disorders

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Questions and Answers

What is the primary cause of irreversible damage, coma, and death in Urea Cycle Disorders (UCDs)?

Deficiency of arginine in the blood
Accumulation of ammonia in the blood (correct)
Accumulation of urea in the blood
Deficiency of ornithine in the blood

Which of the following enzymes is NOT involved in the urea cycle?

Carbamyl phosphate synthetase II (CPS II) (correct)
Ornithine transcarbamylase (OTC)
N-acetylglutamate synthetase (NAGS)
Arginosuccinate lyase (AL)

What is the primary function of the urea cycle?

To convert citrulline to ornithine
To detoxify ammonia from the blood
To convert ammonia to urea (correct)
To synthesize arginine from ammonia

What is the mode of inheritance for UCDs?

Autosomal recessive (C) Signup and view all the answers

Which of the following is a common symptom of UCDs?

Hypotonia (B) Signup and view all the answers

What is the effect of liver transplant on UCDs?

It can be an effective treatment for UCDs with advanced liver disease (A) Signup and view all the answers

What is the primary factor that determines the degree of hyperammonemia in UCDs?

All of the above (D) Signup and view all the answers

What is the primary goal of dietary therapy for UCDs?

To reduce protein intake (C) Signup and view all the answers

Which of the following is a characteristic of ornithine transcarbamylase (OTC) deficiency?

Orotic aciduria and hyperammonemia (B) Signup and view all the answers

What is the prognosis for UCDs in newborns?

Very poor, with survivors often being handicapped (D) Signup and view all the answers

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