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==Work-Up==
==Work-Up==
#Elevated Ammonia
#Ammonia
## Key to suspect diagnosis, however there are a few diseases where  ammonia may be normal
##Elevated ammonia is common finding
# +/- Hypoglycemia, metabolic acidosis, anion gate, elevated  lactate, ketones
#Chemistry
# Sepsis work up usually concomitant, if patient is ill as these children are prone to infections
##May see hypoglycemia, metabolic acidosis
#Lactate
#Ketones


==DDx==
==DDx==

Revisión del 16:32 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

  1. Ammonia
    1. Elevated ammonia is common finding
  2. Chemistry
    1. May see hypoglycemia, metabolic acidosis
  3. Lactate
  4. Ketones

DDx

Treatment

  1. Must stop catabolism and acculmulation of toxins/ammonia
  2. IVF with Dextrose at 1-1.5x maintenace
  3. Don't feed
  4. Dialysis (ammonia >500)
  5. NaBicarb if acidotic
  6. Consider L-carnitine in conjuction with specialist, as some diseases may respond (but has side effects)
  7. Antibiotics-- assume sepsis
  8. if seizing-- consider Vit B6/pyroxidine

See Also

Obtenido de «https://www.wikem.org/w/index.php?title=Inborn_errors_of_metabolism&oldid=7824»