Li, Yingxuan;
Wang, Miaomiao;
Huang, Zhaoyang;
Ye, Jing;
Wang, Yuping
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review
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Media type:
E-Article
Title:
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review
Description:
<jats:title>Abstract</jats:title><jats:sec>
<jats:title>Background</jats:title>
<jats:p>Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the <jats:italic>PCCA</jats:italic> or <jats:italic>PCCB</jats:italic> gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical phenotypes and severity in the neonatal or infant period, with only a few developing symptoms after infancy. This report describes a PA patient with an adult-onset phenotype and a novel compound heterozygous mutation in the <jats:italic>PCCB</jats:italic> gene. To further explore the genotype–phenotype correlations in late-onset PA, we performed a literature review focusing on and summarizing 11 patients with PCC gene mutations who had the first onset and/or the definite diagnosis after infancy.</jats:p>
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<jats:title>Case presentation</jats:title>
<jats:p>A 21-year-old PA patient presented with weakness of four limbs, gait abnormalities, two episodes of seizures, mental and behavior disorders after severe vomiting. Magnetic Resonance Imaging (MRI) demonstrated sustained bilateral caudate head and putamen symmetrical hyperintensity. Biochemical investigations revealed plasma amino and urine values correlating with a PA profile. Genetic analysis confirmed novel compound heterozygous variants in <jats:italic>PCCB</jats:italic>, with a newly-found pathogenic mutation (c.467T>C) and the c.1316A>G mutation associated with pathogenicity.</jats:p>
</jats:sec><jats:sec>
<jats:title>Conclusion</jats:title>
<jats:p>We identified a novel compound heterozygous mutation in the <jats:italic>PCCB</jats:italic> gene causing late-onset PA. Patients carrying mutations in the <jats:italic>PCCB</jats:italic> gene tend to develop late-onset PA and present neuropsychiatric symptoms and/or signs. Further molecular biological research is needed to explore the genotype–phenotype correlations of PA.</jats:p>
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