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Text
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<a href="http://doi.org/10.1016/j.ymgme.2020.09.006" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ymgme.2020.09.006</a>
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ISSN
1096-7206 1096-7192
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Update Year & Number
October 2020 List
NEOMED College
NEOMED College of Medicine
NEOMED Department
Department of Pediatrics
Department of General Surgery
NEOMED Student Publications
Affiliated Hospital
Akron Children's Hospital
Summa Health System Akron City Hospital
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Title
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Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Publisher
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Molecular Genetics and Metabolism
Date
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2020
2020-10-03
Subject
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Treatment; Phenotype; Biomarker; Propionic acidemia
Creator
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Wenger O;Brown M;Smith B;Chowdhury D;Crosby AH;Baple EL;Yoder M;Laxen W;Tortorelli S;Strauss KA
Description
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Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers, and disease progression are poorly understood. Sixteen individuals homozygous for PCCB c.1606A > G (p.Asn536Asp) variant PA participated in a two-week suspension of therapy. Standard metabolic markers (plasma amino acids, blood spot methylcitrate, plasma/urine acylcarnitines, urine organic acids) were obtained before and after stopping treatment. These same markers were obtained in sixteen unaffected siblings. Echocardiography and electrocardiography were obtained from all subjects. We characterized the baseline biochemical phenotype of untreated PCCB c.1606A > G homozygotes and impact of treatment on PCC deficiency biomarkers. Therapeutic regimens varied widely. Suspension of therapy did not significantly alter branched chain amino acid levels, their alpha-ketoacid derivatives, or urine ketones. Carnitine supplementation significantly increased urine propionylcarnitine and its ratio to total carnitine. Methylcitrate blood spot and urine levels did not correlate with other biochemical measures or cardiac outcomes. Treatment of PCCB c.1606A > G homozygotes with protein restriction, prescription formula, and/or various dietary supplements has a limited effect on core biomarkers of PCC deficiency. These patients require further longitudinal study with standardized approaches to better understand the relationship between biomarkers and disease burden.
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<a href="http://doi.org/10.1016/j.ymgme.2020.09.006" target="_blank" rel="noreferrer noopener">10.1016/j.ymgme.2020.09.006</a>
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journalArticle
2020
Baple EL
Biomarker
Brown M
Chowdhury D
Crosby AH
Department of General Surgery
Department of Pediatrics
journalArticle
Laxen W
Molecular Genetics and Metabolism
NEOMED College of Medicine
NEOMED Student Publications
October 2020 List
Phenotype
Propionic acidemia
Smith B
Strauss KA
Tortorelli S
Treatment
Wenger O
Yoder M