Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency

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 with a strict restriction of dietary protein, severe fall of serum albumin l evels appeared and her condition became strikingly worsened. However, after sodium phenylbutyrate (NaPB) therapy was initiated, the clinical condition and metabolic stability was greatly improved.

Source: Brain and Development - October 7, 2019 Category: Neurology Authors: Mayumi Matsufuji, Eiko Takeshita, Masayuki Nakashima, Yoriko Watanabe, Kaori Fukui, Toshio Hanai, Hiromi Ishibashi, Sachio Takashima Tags: Case Report Source Type: research