Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Hsia, 1971, Inherited propionyl-Coa carboxylase deficiency in “ketotic hyperglycinemia”, J. Clin. Invest., 50, 127, 10.1172/JCI106466 Rashed, 1994, Experience of king faisal specialist hospital and research center with Saudi organic acid disorders, Brain Dev., 16, 1, 10.1016/0387-7604(94)90090-6 Al Essa, 1998, Infectious complications of propionic acidemia in Saudia Arabia, Clin. Genet., 54, 90, 10.1111/j.1399-0004.1998.tb03702.x Al-Odaib, 2003, A new era for preventive genetic programs in the Arabian Peninsula, Saudi Med. J., 24, 1168 Rafique, 2013, Propionic acidaemia: demographic characteristics and complications, J. Pediatr. Endocrinol. Metab., 26, 497, 10.1515/jpem-2013-0031 Al-Rikabi, 2004, Propionic acidemia and zinc deficiency presenting as necrolytic migratory erythema, Saudi Med. J., 25, 660 Moammar, 2010, Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983–2008, Ann. Saudi Med., 30, 271, 10.4103/0256-4947.65254 Alfadhel, 2016, Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia, Orphanet J. Rare Dis., 11, 126, 10.1186/s13023-016-0510-3 Zayed, 2015, Propionic acidemia in the Arab World, Gene, 564, 119, 10.1016/j.gene.2015.04.019 Ozand, 1994, vol. 16 Suppl, 46 Huang, 2010, Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase, Nature, 466, 1001, 10.1038/nature09302 Kennerknecht, 1990, The gene coding for the alpha-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32, Hum. Genet., 86, 238, 10.1007/BF00197713 Clavero, 2002, Functional characterization of PCCA mutations causing propionic acidemia, Biochim. Biophys. Acta, 1588, 119, 10.1016/S0925-4439(02)00155-2 Stankovics, 1993, Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts, Am. J. Hum. Genet., 52, 144 Kraus, 2012, Mutation analysis in 54 propionic acidemia patients, J. Inherit. Metab. Dis., 35, 51, 10.1007/s10545-011-9399-0 Desviat, 2004, Propionic acidemia: mutation update and functional and structural effects of the variant alleles, Mol. Genet. Metab., 83, 28, 10.1016/j.ymgme.2004.08.001 Rodriguez-Pombo, 1998, Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients, Am. J. Hum. Genet., 63, 360, 10.1086/301970 Perez-Cerda, 2003, Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts, Biochim. Biophys. Acta, 1638, 43, 10.1016/S0925-4439(03)00039-5 Rashed, 1995, Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry, Pediatr. Res., 38, 324, 10.1203/00006450-199509000-00009 Wojtowicz, 2010, Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy, J. Chromatogr. A, 1217, 8054, 10.1016/j.chroma.2010.09.067 Gravel, 1977, Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts, Am. J. Hum. Genet., 29, 378 Saunders, 1979, Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts, J. Clin. Invest., 64, 1695, 10.1172/JCI109632 Baumgartner, 2014, Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia, Orphanet J. Rare Dis., 9, 130, 10.1186/s13023-014-0130-8 Al-Owain, 2013, Autism spectrum disorder in a child with propionic acidemia, JIMD Rep., 7, 63, 10.1007/8904_2012_143 Kaya, 2008, Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia, Eur. J. Med. Genet., 51, 558, 10.1016/j.ejmg.2008.08.001 Shuaib, 2012, Propionic acidemia associated with visual hallucinations, J. Child Neurol., 27, 799, 10.1177/0883073811426929 Al-Abdulkareem, 1998, Consanguineous marriage in an urban area of Saudi Arabia: rates and adverse health effects on the offspring, J. Community Health, 23, 75, 10.1023/A:1018727005707 Kelley, 2015, The Phyre2 web portal for protein modeling, prediction and analysis, Nat. Protoc., 10, 845, 10.1038/nprot.2015.053 Nizon, 2013, Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias, Orphanet J. Rare Dis., 8, 148, 10.1186/1750-1172-8-148 Sanchez-Alcudia, 2012, Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia, Hum. Mutat., 33, 973, 10.1002/humu.22047 Perez, 2012, Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease, Mol. Syndromology, 3, 230, 10.1159/000343086 Le Guilloux, 2009, Fpocket: an open source platform for ligand pocket detection, BMC Bioinforma., 10, 168, 10.1186/1471-2105-10-168 Rafique, 2013, Clinical spectrum of propionic acidaemia, J. Nutr. Metab., 2013, 10.1155/2013/975964 Rafique, 2014, Emerging trends in management of propionic acidemia, Arquivos brasileiros de endocrinologia e metabologia, 58, 237, 10.1590/0004-2730000002821 Selim, 2014, Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report, Clin. Biochem., 47, 823, 10.1016/j.clinbiochem.2014.04.002 Levesque, 2012, Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients, JIMD Rep., 2, 97, 10.1007/8904_2011_54 Perez, 2003, Propionic acidemia: identification of twenty-four novel mutations in Europe and North America, Mol. Genet. Metab., 78, 59, 10.1016/S1096-7192(02)00197-X Chen, 2015, Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia, Zhonghua yi xue yi chuan xue za zhi, 32, 26 Rivera-Barahona, 2018, Identification of 34 novel mutations in propionic acidemia: functional characterization of missense variants and phenotype associations, Mol. Genet. Metab., 125, 266, 10.1016/j.ymgme.2018.09.008 Gupta, 2016, Seventeen novel mutations in PCCA and PCCB genes in Indian propionic acidemia patients, and their outcomes, Genet. Test. Mol. Biomark., 20, 373, 10.1089/gtmb.2016.0017 Brosch, 2008, [Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?], HNO, 56, 37, 10.1007/s00106-007-1560-6