inborn-errors-of-metabolism63
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Pharmacological treatment
before having a diagnosis
AIMS
⇓precursors ⇓catabolism ⇑anabolism
• stop protein
• caloric intake ≥100 kcal/kg
• insulin …and
endogenous depuration
• arginine 250 mg/Kg/2 hrs + 250 - 500 mg/Kg/day
• carnitine 1g i.v. bolus 250 - 500 mg/Kg/day
• vitamins (B12 1 mg,biotin 5-15 mg)
• benzoate/phenylbutyrate 250 mg/Kg/2 hrs + 250
mg/Kg/day (UCD only?)
• peroral carbamylglutamate 100 – 300 mg/kg
Picca et al. Ped Nephrol 2001
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