Organic acidemias Flashcards
1
Q
What is the metabolism defect in organic acidemias?
A
Protein
defect in aa breakdown leads to accumulation of organic acid byproducts
2
Q
What disorders are included in organic acidemias?
A
- Propionic
- Methylmalonic
- Isovaleric
3
Q
What is the most common presentation of organic acidemias?
A
Metabolic acidosis with anion gap
4
Q
What are other common presentations of organic acidemias?
A
Neonatal lethargy, vomiting, coma, stroke, death
5
Q
What laboratory test should be done in organic acidemias?
A
Urine organic acids
6
Q
What other tests can be done in organic acidemias?
A
Newborn screen
Plasma acylcarnitines
7
Q
What is the acute treatment of organic acidemias?
A
- D10NS IV
- Early use of fluids
- No protein
- IV lipid emulsion
- Dialysis may be needed in sick neonate
8
Q
What is the chronic management of organic acidemias?
A
- Low-protein diet
- Supplemental medical food
- Carnitine
- Liver transplantation
