Aminoacidopathies Flashcards
1
Q
What is the metabolism defect for aminoacidopathies?
A
Protein
defect in aa breakdown leading to accumulation of certain intact amino acids
2
Q
What are some types of aminoacidopathies?
A
- Maple syrup urine
- Phenylketonuria
- Homocystinuria tyrosinemia
3
Q
What is the most common presentation features of aminoacidopathies?
A
No acidosis or hyperammonemia
4
Q
What are other features on presentation in aminoacidopathies?
A
Elevations in specific amino acids
5
Q
What is the laboratory test for aminoacidopathies?
A
Plasma amino acid
6
Q
What other tests can be done for aminoacidopathies?
A
Newborn screen
7
Q
What is the acute management of aminoacidopathies?
A
For maple syrup urine disease, similar to organic acidemias
8
Q
What are the chronic management for aminoacidopathies?
A
- Restrict offending amino acid
- Supplemental food
- Monitor plasma amino acids
