Diferencia entre revisiones de «Inborn errors of metabolism»
| Línea 31: | Línea 31: | ||
# NaBicarb if acidotic | # NaBicarb if acidotic | ||
# Consider L-carnitine in conjuction with specialist, as some diseases may respond (but has side effects) | # Consider L-carnitine in conjuction with specialist, as some diseases may respond (but has side effects) | ||
# | #If seizing: consider Vit B6/pyroxidine | ||
==See Also== | ==See Also== | ||
*[[Neonatal Resuscitation]] | *[[Neonatal Resuscitation]] | ||
[[Category:Peds]] | [[Category:Peds]] | ||
Revisión del 16:33 2 feb 2012
Background
- Suspect in any sick neonate
- Newborn screening varies by state
- May present as late as early childhood
Diagnosis
Exam and history:
- Lethargic (2/2 hyperammonia encephelopathy)
- Nausea/vomiting
- Difficulty feeding
- Seizure
- Strange odors
- Hypotonia
Work-Up
- Ammonia
- Elevated ammonia is common finding
- Chemistry
- May see hypoglycemia, metabolic acidosis
- Lactate
- Ketones
DDx
Treatment
- Must stop catabolism and acculmulation of toxins/ammonia
- IVF with Dextrose at 1-1.5x maintenace
- Don't feed
- Dialysis (ammonia >500)
- NaBicarb if acidotic
- Consider L-carnitine in conjuction with specialist, as some diseases may respond (but has side effects)
- If seizing: consider Vit B6/pyroxidine