2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Long Term Efficacy and Safety of Carglumic Acid Treatment in Patients with Organic Acidemia in East Asia Population

Pdf Summary

This research poster presentation focuses on the long-term efficacy and safety of carglumic acid treatment in patients with organic acidemia, specifically methylmalonic acidemia (MMA) and proprionic acidemia (PA), in East Asia. Organic acidemias are inherited metabolic disorders that result from defects in intermediary metabolic pathways. The main symptoms include acidosis, hyperammonemia, poor feeding, and encephalopathy. The standard management for MMA and PA involves protein intake restriction, intravenous glucose infusion, and the use of ammonia scavengers or hemodialysis during acute decompensation. However, these treatments are not curative, and complications and high-risk mortality are common.<br /><br />Carglumic acid, an analog of N-acetylglutamate, has been approved for the treatment of acute hyperammonemia in organic acidemias. It can activate carbamoyl phosphate synthetase 1 to promote ammonia clearance. Several studies have confirmed its efficacy and safety in long-term use. The study discussed in this presentation took place from November 2019 to May 2021 and involved three patients with MMA who had previously experienced episodes of hyperammonemia. They received 12 months of treatment with carglumic acid, and their clinical condition, adverse effects, and serious adverse effects were monitored continuously.<br /><br />The study found that carglumic acid stabilized ammonia levels and prevented metabolic decompensation during acute illness. It also increased the patients' natural protein tolerance. The poster includes information about the patients' ages, body weights, carglumic acid doses, and concomitant therapies. It also includes graphs showing the levels of ammonia, C3-acylcarnitine, dried blood spot MMA, isoluecine, and valine at baseline and every three months during treatment with carglumic acid.<br /><br />The poster provides references to the studies that support the use of carglumic acid in organic acidemias and includes contact information for Rai-Hseng Hsu, the lead researcher. Overall, this presentation highlights the potential benefits of long-term carglumic acid treatment in stabilizing ammonia levels and preventing metabolic decompensation in patients with organic acidemia.

Asset Subtitle

Presenting Author - Rai-Hseng Hsu, MD; Co-Author - Hui-An Chen, MD; Co-Author - Yin-Hsiu Chien, MD, PhD; Co-Author - Wuh-Liang Hwu, MD, PhD; Co-Author - Yu-Ching Lin, bachelor; Co-Author - Ni-Chung Lee, MD, PhD;

Meta Tag

Clinical History

Delineation of Diseases

Metabolic Disorder

Therapy

Co-Author Hui-An Chen, MD

Co-Author Yin-Hsiu Chien, MD, PhD

Co-Author Wuh-Liang Hwu, MD, PhD

Co-Author Yu-Ching Lin, bachelor

Co-Author Ni-Chung Lee, MD, PhD

Presenting Author Rai-Hseng Hsu, MD

Keywords

carglumic acid

organic acidemia

methylmalonic acidemia

proprionic acidemia

East Asia

inherited metabolic disorders

ammonia clearance

long-term efficacy

safety

hyperammonemia