Inborn errors of metabolism: Difference between revisions
m (Rossdonaldson1 moved page Inborn Errors to Inborn errors of metabolism) |
(→DDx) |
||
| Line 21: | Line 21: | ||
#Ketones | #Ketones | ||
== | ==Differential Diagnosis== | ||
{{Sick neonate DDX}} | |||
==Treatment== | ==Treatment== | ||
Revision as of 20:23, 25 March 2015
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
Differential Diagnosis
Sick Neonate
THE MISFITS [1]
- Trauma
- Heart
- Congenital heart disease
- Hypovolemia
- Endocrine
- Metabolic
- Sodium
- Calcium
- Glucose
- Inborn errors of metabolism
- Seizure
- Formula / feeding problems
- Intestinal Disasters
- Toxin
- Sepsis
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
See Also
- ↑ Brousseau T, Sharieff GQ. Newborn emergencies: the first 30 days of life. Pediatr Clin North Am. 2006 Feb;53(1):69-84, vi.