Diferencia entre revisiones de «Inborn errors of metabolism»
Sin resumen de edición |
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| Línea 10: | Línea 10: | ||
* Difficulty feeding | * Difficulty feeding | ||
* Seizure | * Seizure | ||
* | * Unusual odors | ||
* Hypotonia | * Hypotonia | ||
| Línea 27: | Línea 27: | ||
#Must stop catabolism and acculmulation of toxins/ammonia | #Must stop catabolism and acculmulation of toxins/ammonia | ||
# IVF with Dextrose at 1-1.5x maintenace | # IVF with Dextrose at 1-1.5x maintenace | ||
# | # Stop feeding | ||
# Dialysis (ammonia >500) | # Dialysis (ammonia >500) | ||
# NaBicarb if acidotic | # NaBicarb if acidotic | ||
Revisión del 16:42 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
- Unusual 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
- Stop feeding
- 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