Propionic acidemia: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Propionic acidemia: clinical features. This is caused by mutations in the PCCA or PCCB genes. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the PCCA or PCCB genes
- This results in propionyl-CoA carboxylase deficiency
- The transmission is autosomal recessive
- The onset age is usually <3 months
Clinical features
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Epilepsy features
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Other neurological features
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Other clinical features
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Metabolic features
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Acronyms
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References
- Zayed H. Propionic acidemia in the Arab world. Gene 2015; 564:119-124.
- Al-Hamed MH, Imtiaz F, Al-Hassnan Z, et al. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. Mol Genet Metab Rep 2019; 18:22-29.
- AlGhamdi A, Alrifai MT, Al Hammad AI, et al. Epilepsy in propionic acidemia: case series of 14 Saudi patients. J Child Neurol 2018; 33:713-717.
- Haberlandt E, Canestrini C, Brunner-Krainz M, et al. Epilepsy in patients with propionic acidemia. Neuropediatrics 2009; 40:120-125.
- Wongkittichote P, Ah Mew N, Chapman KA. Propionyl-CoA carboxylase-a review. Mol Genet Metab 2017; 122:145-152.
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