hyperargininemia/アルブミン

A 20-year-old female underwent orthotopic liver transplantation for arginase deficiency, a urea cycle disorder. A hyperammonemic state was prevented by the administration of lipid and carbohydrate substrate and avoidance of protein loading (including human albumin) and prolonged fasting. Caval

BACKGROUND Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient

An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy. Though the treatment was successful in ameliorating hyperammonemia, hyperargininemia persisted. After being under control