Nelson Textbook of Pediatrics 22nd Ed — Section 105.12. Type I: AR, ASS1 mutations, severe hyperammonemia, citrulline >1000 µmol/L. Treatment: arginine, sodium benzoate, protein restriction. Type II (citrin deficiency): SLC25A13, neonatal cholestasis, hypoglycemia, aversion to carbohydrates.
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