[Phenotypes and genotypes of 78 patients with propionic acidemia]

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Propionic acidemia is a rare inherited metabolic disorder.
• It results from propionyl CoA carboxylase (PCC) deficiency.
• Understanding its clinical and genetic landscape in China is important.

Purpose of the Study:

• To analyze clinical characteristics and gene variations in Chinese propionic acidemia patients.
• To explore genotype-phenotype correlations.

Main Methods:

• Retrospective, observational study of 78 Chinese propionic acidemia patients (2007-2022).
• Analysis of clinical manifestations, biochemical data, and genetic variations (PCCA and PCCB genes).
• Statistical analysis using Chi-Square and Mann-Whitney U tests.

Main Results:

• 7.7% identified by newborn screening; 92.3% diagnosed clinically.
• Common variants identified in PCCA and PCCB genes.
• Certain variants may correlate with early- or late-onset disease.
• Newborn screening led to normal development; 12.8% mortality in clinically diagnosed cases.

Conclusions:

• Propionic acidemia exhibits complex and non-specific clinical features.
• Newborn and high-risk screening are vital for early intervention and improved outcomes.
• Genotype-phenotype correlations are not fully understood but specific variants may influence disease onset.