OBJECTIVE: To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). METHODS: Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders. RESULTS: With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment. CONCLUSION GPB is safe and effective for the treatment of OTCD.
Child ; Humans ; Ornithine Carbamoyltransferase Deficiency Disease/drug therapy* ; Phenylbutyrates/therapeutic use* ; Ammonia ; Retrospective Studies

Arrhythmia is one of the most common diseases in clinical practice that can threaten the health and safety of patients and is referred to as "palpitations" in traditional Chinese medicine. Traditional Chinese medicine often uses the method of tonifying qi and nourishing yin to treat palpitations in clinical practice. However, there is currently a lack of relevant research on its treatment mechanism. From the perspective of pharmacology and through a literature search, this paper summarized the progress in the mechanism of traditional Chinese medicine for supplementing qi and nourishing yin commonly used in the treatment of palpitations, as well as traditional Chinese patent medicines and simple preparations for the treatment of arrhythmia, to explore their mechanism of action on palpitations. This paper also summarized that traditional Chinese medicine drugs for tonifying qi and nourishing yin mainly regulate various signal pathways and ion channels through multiple target genes, thereby regulating heart rhythm and improving clinical symptoms in patients with palpitations. The results can provide new ideas for colleagues on palpitations treatment.