Diferencia entre revisiones de «Inborn errors of metabolism»
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==Work-Up== | ==Work-Up== | ||
*Ammonia | |||
**Elevated ammonia is common finding | |||
*Chemistry | |||
**May see hypoglycemia, metabolic acidosis | |||
*Lactate | |||
*Ketones | |||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
| Línea 25: | Línea 25: | ||
==Treatment== | ==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== | ==See Also== | ||
| Línea 37: | Línea 37: | ||
[[Category:Peds]] | [[Category:Peds]] | ||
==Inborn Errors of Metabolism== | |||
===Background=== | |||
*Clinical manifestations are due to accumulation of toxic metabolites | |||
*Must rule-out sepsis (more common in these pts) | |||
===Diagnosis=== | |||
*Encephalopathy | |||
*Hypoglycemia | |||
*Hepatic dysfunction | |||
*Nonspecific complaints: lethargy, irritability, N/V | |||
===Work-Up=== | |||
*Glucose level | |||
*UA (ketones) | |||
*Chemistry | |||
**Anion gap a/w organic acidemias | |||
*LFT | |||
*Ammonia | |||
**Should be <200 in normal neonate (higher suggests urea cycle disorders) | |||
*Lactate | |||
*VBG | |||
===Treatment=== | |||
*NS 20 mL/kg boluses | |||
**Increase renal excretion of toxic metabolites | |||
*Keep NPO | |||
**Removes potential inciting metabolic substrates | |||
**Provide D10 at 2x usual maintenance rates | |||
*Hyperammonemia | |||
**<500 | |||
***(Na phenylacetate & Na benzoate) 250mg/kg in D10 over 90min; then 250 mg/kg/d infusion | |||
***Arginine 210mg/kg IV/IO in D10 over 90min; then 210 mg/kg/d infusion | |||
**>600 | |||
***Dialysis | |||
*Cerebral edema | |||
**Hyperammonemia is risk factor | |||
***Give mannitol 0.5gm/kg IV/IO | |||
***Do not give steroids (worsens hyperammonemia) | |||
Revisión del 07:35 1 may 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
Inborn Errors of Metabolism
Background
- Clinical manifestations are due to accumulation of toxic metabolites
- Must rule-out sepsis (more common in these pts)
Diagnosis
- Encephalopathy
- Hypoglycemia
- Hepatic dysfunction
- Nonspecific complaints: lethargy, irritability, N/V
Work-Up
- Glucose level
- UA (ketones)
- Chemistry
- Anion gap a/w organic acidemias
- LFT
- Ammonia
- Should be <200 in normal neonate (higher suggests urea cycle disorders)
- Lactate
- VBG
Treatment
- NS 20 mL/kg boluses
- Increase renal excretion of toxic metabolites
- Keep NPO
- Removes potential inciting metabolic substrates
- Provide D10 at 2x usual maintenance rates
- Hyperammonemia
- <500
- (Na phenylacetate & Na benzoate) 250mg/kg in D10 over 90min; then 250 mg/kg/d infusion
- Arginine 210mg/kg IV/IO in D10 over 90min; then 210 mg/kg/d infusion
- >600
- Dialysis
- <500
- Cerebral edema
- Hyperammonemia is risk factor
- Give mannitol 0.5gm/kg IV/IO
- Do not give steroids (worsens hyperammonemia)
- Hyperammonemia is risk factor
- ↑ Brousseau T, Sharieff GQ. Newborn emergencies: the first 30 days of life. Pediatr Clin North Am. 2006 Feb;53(1):69-84, vi.