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
2
Q
What disorders are urea cycle disorders?
A
- Ornithine transcarbamylase (X linked)
- Citrullinemia
- Arginosuccinic aciduria
3
Q
What is the most common presentation of urea cycle disorders?
A
Hyperammonemia without acidosis
4
Q
What are other presenting features of urea cycle disorders?
A
Neonatal lethargy, vomiting, coma, death
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)
6
Q
What is the acute treatment for urea cycle disorders?
A
- D10NS IV
- Early use of fluids
- Sodium benzoate/phenylacetate
- Arginine
- Dialysis
7
Q
What is the chronic management of urea cycle disorders?
A
- Low protein diet
- Supplemental food
- Phenylbutyrate
- Arginine/citrulline
- Liver transplantation
