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| | ==Background== |
| | *[[Adrenal Insufficiency]] |
| *[[Hypoglycemia (peds)]] | | *[[Hypoglycemia (peds)]] |
| | *[[Inborn errors of metabolism]] |
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| ==Inborn Errors of Metabolism== | | ==References== |
| ===Background===
| | <References/> |
| *Clinical manifestations are due to accumulation of toxic metabolites
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| *Must rule-out sepsis (more common in these pts)
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| ===Diagnosis===
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| *Encephalopathy
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| *Hypoglycemia
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| *Hepatic dysfunction
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| *Nonspecific complaints: lethargy, irritability, N/V
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| ===Work-Up===
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| *Glucose level
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| *UA (ketones)
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| *Chemistry
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| **Anion gap a/w organic acidemias
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| *LFT
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| *Ammonia
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| **Should be <200 in normal neonate (higher suggests urea cycle disorders)
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| *Lactate
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| *VBG
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| ===Treatment===
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| #NS 20 mL/kg boluses
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| ##Increase renal excretion of toxic metabolites
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| #Keep NPO
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| ##Removes potential inciting metabolic substrates
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| ##Provide D10 at 2x usual maintenance rates
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| #Hyperammonemia
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| ##<500
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| ###(Na phenylacetate & Na benzoate) 250mg/kg in D10 over 90min; then 250 mg/kg/d infusion
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| ###Arginine 210mg/kg IV/IO in D10 over 90min; then 210 mg/kg/d infusion
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| ##>600
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| ###Dialysis
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| #Cerebral edema
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| ##Hyperammonemia is risk factor
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| ###Give mannitol 0.5gm/kg IV/IO
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| ###Do not give steroids (worsens hyperammonemia)
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| ==See Also==
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| *[[Hypoglycemia (Peds)]]
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| *[[Adrenal Insufficiency]]
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| == Source ==
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| Tintinalli
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| Kwon KT, Tsai VW. Metabolic emergencies. Emerg Med Clin N Am. 2007;25:1041-1060.
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| [[Category:Endo]] | | [[Category:Endocrinology]] |
| [[Category:Peds]] | | [[Category:Pediatrics]] |
