Prevalence of propionic acidemia in China

Orphanet Journal of Rare Diseases

Review

Guo-Fang Zhang¹  You Wang²  Chuangong Wang²  Suhong Zhu²  Chuwen Peng³  Junwei Wang³  Yixing Zhang³  Sitong Chen³  Ziheng Tian³  Lifang Wang³  Xiaoxin Chen⁴ 

[1] Duke Molecular Physiology Institute and Sarah W. Stedman Nutrition and Metabolism Center, Duke University Medical Center, Carmichael Building 48-203, 300 North Duke Street, 27701, Durham, NC, USA;Department of Medicine, Division of Endocrinology, Metabolism Nutrition, Duke University Medical Center, 27701, Durham, NC, USA;School of Basic Medicine, Jining Medical University, 133 Hehua Road, 272067, Shandong, China;Jining Key Laboratory of Pharmacology, Jining Medical University, 272067, Shandong, China;School of Clinical Medicine, Jining Medical University, 272067, Shandong, China;Surgical Research Lab, Department of Surgery, Cooper University Hospital, 08103, Camden, NJ, USA;Coriell Institute for Medical Research, 08103, Camden, NJ, USA;MD Anderson Cancer Center at Cooper, 08103, Camden, NJ, USA;Cooper Medical School of Rowan University, 08103, Camden, NJ, USA;

关键词: Propionic acidemia;    PCCA;    PCCB;    China;    Epidemiology;    Genotype;    Phenotype;   

DOI  :  10.1186/s13023-023-02898-w

 received in 2022-10-10, accepted in 2023-08-31,  发布年份 2023

来源: Springer

【 摘 要 】

Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to diagnose PA. Early-onset PA can lead to acute deterioration, metabolic acidosis, and hyperammonemia shortly after birth, which can result in high mortality and disability. Late-onset cases of PA have a more heterogeneous clinical spectra, including growth retardation, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, arrhythmias, adaptive immune defects, rhabdomyolysis, optic atrophy, hearing loss, premature ovarian failure, and chronic kidney disease. Timely and accurate diagnosis and appropriate treatment are crucial to saving patients’ lives and improving their prognosis. Recently, the number of reported PA cases in China has increased due to advanced diagnostic techniques and increased research attention. However, an overview of PA prevalence in China is lacking. Therefore, this review provides an overview of recent advances in the pathogenesis, diagnostic strategies, and treatment of PA, including epidemiological data on PA in China. The most frequent variants among Chinese PA patients are c.2002G > A in PCCA and c.1301C > T in PCCB, which are often associated with severe clinical symptoms. At present, liver transplantation from a living (heterozygous parental) donor is a better option for treating PA in China, especially for those exhibiting a severe metabolic phenotype and/or end-organ dysfunction. However, a comprehensive risk–benefit analysis should be conducted as an integral part of the decision-making process. This review will provide valuable information for the medical care of Chinese patients with PA.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

【 图 表 】

Fig. 3

Fig. 1