General highlights Flashcards
1
Q
How do Organic Acidemias present and how do you diagnosis/treat?
A
First 2 days of life with introduction of protein
"Drunk-like" Decreased appetite Falling down frequently Delayed developmental milestones Elevated serum ammonia Acidosis High Anion Gap Ketonuria
Diagnosis- Serum ammonia level Lactic Acid Level Serum Pyruvate Total and free carnitine Acetylcarnitine Urine organic acid levels
Treat-
1st Hydration
2nd change diet
- Methylmalonic acidemia
- Propionic acidemia
- Isovaleric acidemia “odor of sweaty feet”
2
Q
How do lipid metabolisms present and how do you diagnosis/treat?
A
Fatty acid oxidation defects are AUTOSOMAL RECESSIVE
Medial, Long, and Very Long Chain AycylCoA Dehydrogenase Deficiencies
MCAD is the MOST common
Clinical features- Hypoglycemia Hepatomegaly NO ketones NO reducing substances NORMAL serum amino acids Elevated ammonia Elevated LFTs
Diagnosis-
Plasma acylcarnitine profile
Treatment-
Emergent IV 10% guclose and oral L-carnitine
Don’t fast
