Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation
Propionic Acidemia (PA) is a rare inherited metabolic disorder caused by the enzymatic block of propionyl-CoA carboxylase with the consequent accumulation of propionic acid, which is toxic for the brain and cardiac cells. Since a considerable amount of propionate is produced by intestinal bacteria,...
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| Format: | Article |
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MDPI AG
2021-12-01
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| Series: | Microorganisms |
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| Online Access: | https://www.mdpi.com/2076-2607/9/12/2599 |
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| author | Andrea Bordugo Elisa Salvetti Giulia Rodella Michele Piazza Alice Dianin Angela Amoruso Giorgio Piacentini Marco Pane Sandra Torriani Nicola Vitulo Giovanna E. Felis |
| author_facet | Andrea Bordugo Elisa Salvetti Giulia Rodella Michele Piazza Alice Dianin Angela Amoruso Giorgio Piacentini Marco Pane Sandra Torriani Nicola Vitulo Giovanna E. Felis |
| author_sort | Andrea Bordugo |
| collection | DOAJ |
| description | Propionic Acidemia (PA) is a rare inherited metabolic disorder caused by the enzymatic block of propionyl-CoA carboxylase with the consequent accumulation of propionic acid, which is toxic for the brain and cardiac cells. Since a considerable amount of propionate is produced by intestinal bacteria, interest arose in the attempt to reduce propionate-producing bacteria through a monthly antibiotic treatment of metronidazole. In the present study, we investigated the gut microbiota structure of an infant diagnosed at 4 days of life through Expanded Newborn Screening (NBS) and treated the child following international guidelines with a special low-protein diet, specific medications and strict biochemical monitoring. Microbiota composition was assessed during the first month of life, and the presence of <i>Bacteroides fragilis,</i> known to be associated with propionate production, was effectively decreased by metronidazole treatment. After five antibiotic therapy cycles, at 4 months of age, the infant was supplemented with a daily mixture of three bifidobacterial strains, known not to be propionate producers. The supplementation increased the population of bifidobacteria, with <i>Bifidobacterium breve</i> as the dominating species; <i>Ruminococcus gnavus</i>, an acetate and formate producer, was also identified. Metabarcoding analysis, compared with low coverage whole metagenome sequencing, proved to capture all the microbial biodiversity and could be the elected tool for fast and cost-effective monitoring protocols to be implemented in the follow up of rare metabolic disorders such as PA. Data obtained could be a possible starting point to set up tailored microbiota modification treatment studies in the attempt to improve the quality of life of people affected by propionic acidemia. |
| first_indexed | 2024-03-10T03:31:11Z |
| format | Article |
| id | doaj.art-4223a1398cb749ee82bc4edc3a1bd012 |
| institution | Directory Open Access Journal |
| issn | 2076-2607 |
| language | English |
| last_indexed | 2024-03-10T03:31:11Z |
| publishDate | 2021-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Microorganisms |
| spelling | doaj.art-4223a1398cb749ee82bc4edc3a1bd0122023-11-23T09:40:26ZengMDPI AGMicroorganisms2076-26072021-12-01912259910.3390/microorganisms9122599Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic SupplementationAndrea Bordugo0Elisa Salvetti1Giulia Rodella2Michele Piazza3Alice Dianin4Angela Amoruso5Giorgio Piacentini6Marco Pane7Sandra Torriani8Nicola Vitulo9Giovanna E. Felis10Inherited Metabolic Disease Unit, Pediatric Clinic C, Azienda Ospedaliera Università Integrata, Piazzale Stefani 1, 37126 Verona, ItalyDepartment of Biotechnology, University of Verona, Strada le Grazie 15, 37134 Verona, ItalyInherited Metabolic Disease Unit, Pediatric Clinic C, Azienda Ospedaliera Università Integrata, Piazzale Stefani 1, 37126 Verona, ItalyDepartment of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Piazzale Stefani 1, 37126 Verona, ItalyInherited Metabolic Disease Unit, Pediatric Clinic C, Azienda Ospedaliera Università Integrata, Piazzale Stefani 1, 37126 Verona, ItalyProbiotical Research Srl, Via Enrico Mattei 3, 28100 Novara, ItalyDepartment of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Piazzale Stefani 1, 37126 Verona, ItalyProbiotical Research Srl, Via Enrico Mattei 3, 28100 Novara, ItalyDepartment of Biotechnology, University of Verona, Strada le Grazie 15, 37134 Verona, ItalyDepartment of Biotechnology, University of Verona, Strada le Grazie 15, 37134 Verona, ItalyDepartment of Biotechnology, University of Verona, Strada le Grazie 15, 37134 Verona, ItalyPropionic Acidemia (PA) is a rare inherited metabolic disorder caused by the enzymatic block of propionyl-CoA carboxylase with the consequent accumulation of propionic acid, which is toxic for the brain and cardiac cells. Since a considerable amount of propionate is produced by intestinal bacteria, interest arose in the attempt to reduce propionate-producing bacteria through a monthly antibiotic treatment of metronidazole. In the present study, we investigated the gut microbiota structure of an infant diagnosed at 4 days of life through Expanded Newborn Screening (NBS) and treated the child following international guidelines with a special low-protein diet, specific medications and strict biochemical monitoring. Microbiota composition was assessed during the first month of life, and the presence of <i>Bacteroides fragilis,</i> known to be associated with propionate production, was effectively decreased by metronidazole treatment. After five antibiotic therapy cycles, at 4 months of age, the infant was supplemented with a daily mixture of three bifidobacterial strains, known not to be propionate producers. The supplementation increased the population of bifidobacteria, with <i>Bifidobacterium breve</i> as the dominating species; <i>Ruminococcus gnavus</i>, an acetate and formate producer, was also identified. Metabarcoding analysis, compared with low coverage whole metagenome sequencing, proved to capture all the microbial biodiversity and could be the elected tool for fast and cost-effective monitoring protocols to be implemented in the follow up of rare metabolic disorders such as PA. Data obtained could be a possible starting point to set up tailored microbiota modification treatment studies in the attempt to improve the quality of life of people affected by propionic acidemia.https://www.mdpi.com/2076-2607/9/12/2599propionic acidemiapropionic acidmetronidazoleinherited metabolic diseasesmetabarcodingmetagenomics |
| spellingShingle | Andrea Bordugo Elisa Salvetti Giulia Rodella Michele Piazza Alice Dianin Angela Amoruso Giorgio Piacentini Marco Pane Sandra Torriani Nicola Vitulo Giovanna E. Felis Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation Microorganisms propionic acidemia propionic acid metronidazole inherited metabolic diseases metabarcoding metagenomics |
| title | Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation |
| title_full | Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation |
| title_fullStr | Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation |
| title_full_unstemmed | Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation |
| title_short | Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation |
| title_sort | assessing gut microbiota in an infant with congenital propionic acidemia before and after probiotic supplementation |
| topic | propionic acidemia propionic acid metronidazole inherited metabolic diseases metabarcoding metagenomics |
| url | https://www.mdpi.com/2076-2607/9/12/2599 |
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