Urea Cycle Disorders Flashcards

1
Q

What is the metabolism defect for urea cycle disorders?

A

Protein

defect in making urea (BUN) from ammonia that results from amino acid breakdown

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2
Q

What disorders are urea cycle disorders?

A
  1. Ornithine transcarbamylase (X linked)
  2. Citrullinemia
  3. Arginosuccinic aciduria
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3
Q

What is the most common presentation of urea cycle disorders?

A

Hyperammonemia without acidosis

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4
Q

What are other presenting features of urea cycle disorders?

A

Neonatal lethargy, vomiting, coma, death

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5
Q

What laboratory tests should be ordered for urea cycle disorders?

A

Hyperammonemia
Plasma amino acids
Urine organic acids

Newborn screen (not for ornithine transcarbamylase)

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6
Q

What is the acute treatment for urea cycle disorders?

A
  1. D10NS IV
  2. Early use of fluids
  3. Sodium benzoate/phenylacetate
  4. Arginine
  5. Dialysis
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7
Q

What is the chronic management of urea cycle disorders?

A
  1. Low protein diet
  2. Supplemental food
  3. Phenylbutyrate
  4. Arginine/citrulline
  5. Liver transplantation
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