Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12570
Abstract: Propionic acidemia (PA, OMIM 606054) is a devastating inborn error of metabolism arising from mutations that reduce the activity of the mitochondrial enzyme propionyl‐CoA carboxylase (PCC). The defects in PCC reduce the concentrations of nonesterified… read more here.
Keywords: mitochondrial function; bbp 671; coa; mouse model ... See more keywords
The Role of Liver Transplantation in Propionic Acidemia
Sign Up to like & getrecommendations! Published in 2019 at "Liver Transplantation"
DOI: 10.1002/lt.25373
Abstract: We read with interest the article on liver transplantation (LT) for propionic academia (PA) by Quintero et al. We congratulate the authors on their series, and for presenting their outcomes with all its granularity. The authors… read more here.
Keywords: propionic acidemia; transplantation propionic; transplantation; role liver ... See more keywords
Liver Transplantation in Children With Propionic Acidemia: Medium‐Term Outcomes
Sign Up to like & getrecommendations! Published in 2019 at "Liver Transplantation"
DOI: 10.1002/lt.25679
Abstract: Liver transplantation (LT) for patients with propionic acidemia (PA) is an emerging therapeutic option. We present a retrospective review of patients with PA who underwent LT at a tertiary liver center between 1995 and 2015.… read more here.
Keywords: acidemia medium; propionic acidemia; liver transplantation; transplantation ... See more keywords
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.12.004
Abstract: Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of… read more here.
Keywords: saudi; propionic acidemia; pcca pccb; pathogenic variants ... See more keywords
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100645
Abstract: Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the PCCA or PCCB genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with… read more here.
Keywords: whole exome; exome sequencing; propionic acidemia; missense variant ... See more keywords
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100806
Abstract: Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in… read more here.
Keywords: thyrotoxicosis; novel mutation; causing propionic; propionic acidemia ... See more keywords
The re-occurrence of dilated cardiomyopathy in propionic acidemia after liver transplantation requiring heart transplant, first case from Middle East.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s104795112200035x
Abstract: Propionic acidemia is a rare autosomal recessive inborn error of metabolism. It is relatively common in Middle East. Dilated cardiomyopathy is one of the leading causes of morbidity and mortality for patients with propionic acidemia.… read more here.
Keywords: middle east; propionic acidemia; liver transplantation; dilated cardiomyopathy ... See more keywords
Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia
Sign Up to like & getrecommendations! Published in 2018 at "Molecular and Cellular Biology"
DOI: 10.1128/mcb.00491-17
Abstract: ABSTRACT Propionic acidemia is caused by a deficiency of the enzyme propionyl coenzyme A carboxylase (PCC) located in the mitochondrial matrix. Cell-penetrating peptides, including transactivator of transcription (TAT), offer a potential to deliver a cargo… read more here.
Keywords: propionyl coenzyme; pcc; propionic acidemia; import tat ... See more keywords
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0585-5
Abstract: Propionic acidemia is an inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. Sensorineural deafness and severe hearing loss have been described as long-term complications of this disease, however, the mechanism… read more here.
Keywords: hearing loss; sensorineural hearing; patients propionic; propionic acidemia ... See more keywords
Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1008984
Abstract: Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they… read more here.
Keywords: sensitivity; natural variation; propionate sensitivity; propionic acidemia ... See more keywords
Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.807822
Abstract: Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and… read more here.
Keywords: acidemia; pccb gene; novel mutations; late onset ... See more keywords