Inborn errors of metabolism: Difference between revisions
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==Background== | ==Background== | ||
*Over hundreds of diseases | |||
*Suspect in any sick neonate | |||
Over hundreds of diseases | *Newborn screening varies by states, California tests for 29 major diseases | ||
*May present as late as early childhood | |||
Suspect in any sick neonate | |||
Newborn screening varies by states, California tests for 29 major diseases | |||
May present as late as early childhood | |||
==Diagnosis== | ==Diagnosis== | ||
Exam and history: | Exam and history: | ||
* Lethargic (2/2 hyperammonia encephelopathy) | * Lethargic (2/2 hyperammonia encephelopathy) | ||
* Nausea/vomiting | * Nausea/vomiting | ||
| Line 23: | Line 13: | ||
* Strange odors | * Strange odors | ||
* Hypotonia | * Hypotonia | ||
==Work-Up== | ==Work-Up== | ||
#Elevated Ammonia | |||
## Key to suspect diagnosis, however there are a few diseases where ammonia may be normal | |||
Elevated Ammonia | # +/- Hypoglycemia, metabolic acidosis, anion gate, elevated lactate, ketones | ||
# Sepsis work up usually concomitant, if patient is ill as these children are prone to infections | |||
Sepsis work up usually concomitant, if patient is ill as these children are prone to infections | |||
==DDx== | ==DDx== | ||
in neonates: THE MISFITS (see Neonatal Resuscitation) | |||
==Treatment== | |||
in | #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) | |||
# Antibiotics-- assume sepsis | |||
# if seizing-- consider Vit B6/pyroxidine | |||
==See Also== | ==See Also== | ||
see Neonatal Resuscitation | see Neonatal Resuscitation | ||
[[Category:Peds]] | [[Category:Peds]] | ||
Revision as of 20:53, 7 June 2011
Background
- Over hundreds of diseases
- Suspect in any sick neonate
- Newborn screening varies by states, California tests for 29 major diseases
- 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
- Elevated Ammonia
- Key to suspect diagnosis, however there are a few diseases where ammonia may be normal
- +/- Hypoglycemia, metabolic acidosis, anion gate, elevated lactate, ketones
- Sepsis work up usually concomitant, if patient is ill as these children are prone to infections
DDx
in neonates: THE MISFITS (see Neonatal Resuscitation)
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)
- Antibiotics-- assume sepsis
- if seizing-- consider Vit B6/pyroxidine
See Also
see Neonatal Resuscitation