Organic acidurias: Ingredients for precision medicine Article Swipe
Stefan Kölker
,
Matthias R. Baumgartner
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/jimd.12614
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/jimd.12614
Organic acidurias or acidaemias (OADs), such as glutaric aciduria type 1, methylmalonic, propionic and isovaleric aciduria, are a group of inherited metabolic diseases whose common biochemical hallmark is the accumulation of non-amino mono-, di- and tricarboxylic acids called “organic acids.” The majority of OADs is caused by deficient mitochondrial breakdown of coenzyme A-activated carbonic acids, resulting in mitochondrial dysfunction with subsequent energy impairment, oxidative stress, impaired mitophagy and altered post-translational protein acylation,1 and, finally, acute and/or chronic dysfunction of organs with a high energy demand.2 Research into OADs has advanced diagnosis and therapy for affected individuals, reducing mortality and morbidity. Since the 1990s, some OADs have been included in newborn screening programmes, enabling preclinical detection and early initiation of therapy. A variety of treatment strategies has been established, ranging from dietary restriction of precursor amino acids, cofactor treatment and transient emergency treatment to solid organ (liver and kidney) transplantation. Innovative strategies such as mRNA therapy and gene replacement therapy are currently under development or evaluated in clinical trials. Furthermore, longitudinal observation of large patient cohorts has improved our knowledge about natural history and disease variants, molecular genetics has elucidated the underlying genetic defects of OADs, and the development of guidelines has used available evidence to direct diagnosis, therapy and follow-up of individuals with OADs. Despite this progress, the long-term clinical outcome in individuals with OADs is not always favourable, pathomechanisms are far from being fully understood, and the current status of early prediction of disease severity, evidence-based risk stratification and personalised therapy leave room for improvement. Since much progress has been made but important gaps still hamper the transition of OADs to precision medicine, we have decided to dedicate a special issue of the Journal of Inherited Metabolic Disease to OADs and invited key experts in the field to share their insights into future directions in this fascinating field of inherited metabolic diseases and to prepare the ground for predictive, preventative, personalised and participatory medicine for OADs. This themed issue of the Journal of Inherited Metabolic Disease kicks off with a contribution from Schuurmans et al.3 in which a literature-based up-to-date genetic landscape of GCDH pathogenic variants is provided and potential genotype–phenotype correlations in glutaric aciduria type 1 are explored using novel combinatorial methods. Complementary to this study, Yuan et al.4 investigate the predictive power of combining in silico and in vitro modelling with real-world data from longitudinal observational studies for glutaric aciduria type 1. In the following articles, the themed issue focuses on the recent progress in elucidating pathomechanisms and exploiting this knowledge for targeted therapy. McCorvie et al.5 discuss the complex cooperation of transporters, enzymes and chaperones that are required for the generation and delivery of cobalamin, a cofactor for two human enzymes. This is followed by Ramon et al.6 demonstrating how cellular and computational models help to decipher environmental and metabolic interactions in methylmalonic aciduria, suggesting a compensatory role for increased anaplerosis through glutamine. Next, Head et al.7 outline how precise knowledge about pathophysiology in methylmalonic aciduria has enabled the development of targeted therapy. Since conservative therapy does not prevent disease progression and the manifestation of irreversible organ dysfunction in individuals with methylmalonic and propionic aciduria, two articles presented by Martinelli et al.8 and Chakrapani et al.9 focus on safety, efficacy and timing of solid organ transplantation as well as neurological outcome following transplantation. In the final articles, the themed issue explores the importance of evidence-based guidelines for individuals with rare disorders such as OADs. Boy et al.10 present the third revision of recommendations for glutaric aciduria type 1, developed by an international group of experts and patient representatives. Finally, Forny et al.11 demonstrate how guideline development can guide clinical research (et vice versa), enabling a steady improvement of our knowledge base and the level of evidence of recommendations for these rare diseases. Taken together, the collection of papers in this special issue of the Journal of Inherited Metabolic Disease is a rich source of knowledge and expertise on OADs and will hopefully provide new insights and inspiration for future research and clinical studies.
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Metadata
- Type
- editorial
- Language
- en
- Landing Page
- https://doi.org/10.1002/jimd.12614
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12614
- OA Status
- bronze
- References
- 11
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4366351251
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4366351251Canonical identifier for this work in OpenAlex
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https://doi.org/10.1002/jimd.12614Digital Object Identifier
- Title
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Organic acidurias: Ingredients for precision medicineWork title
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editorialOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-04-19Full publication date if available
- Authors
-
Stefan Kölker, Matthias R. BaumgartnerList of authors in order
- Landing page
-
https://doi.org/10.1002/jimd.12614Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12614Direct link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12614Direct OA link when available
- Concepts
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Medicine, Newborn screening, Methylmalonic aciduria, Intensive care medicine, Bioinformatics, Pediatrics, Internal medicine, Biology, Methylmalonic acid, HomocysteineTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.or | 2, 163 |
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| abstract_inverted_index.we | 274 |
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| abstract_inverted_index.Boy | 578 |
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| abstract_inverted_index.key | 293 |
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| abstract_inverted_index.our | 177, 622 |
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| abstract_inverted_index.Yuan | 378 |
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| abstract_inverted_index.al.7 | 490 |
| abstract_inverted_index.al.8 | 535 |
| abstract_inverted_index.al.9 | 539 |
| abstract_inverted_index.and, | 72 |
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| abstract_inverted_index.from | 129, 232, 342, 396 |
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| abstract_inverted_index.mRNA | 153 |
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| abstract_inverted_index.room | 253 |
| abstract_inverted_index.some | 103 |
| abstract_inverted_index.such | 5, 151, 575 |
| abstract_inverted_index.that | 439 |
| abstract_inverted_index.this | 215, 306, 376, 422, 643 |
| abstract_inverted_index.type | 9, 366, 403, 590 |
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| abstract_inverted_index.vice | 615 |
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| abstract_inverted_index.will | 664 |
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| abstract_inverted_index.Forny | 603 |
| abstract_inverted_index.Next, | 487 |
| abstract_inverted_index.OADs, | 194 |
| abstract_inverted_index.OADs. | 213, 326, 577 |
| abstract_inverted_index.Ramon | 459 |
| abstract_inverted_index.Since | 100, 256, 507 |
| abstract_inverted_index.Taken | 636 |
| abstract_inverted_index.about | 179, 495 |
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| abstract_inverted_index.field | 297, 308 |
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| abstract_inverted_index.focus | 540 |
| abstract_inverted_index.fully | 234 |
| abstract_inverted_index.group | 18, 596 |
| abstract_inverted_index.guide | 611 |
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| abstract_inverted_index.issue | 281, 329, 411, 563, 645 |
| abstract_inverted_index.kicks | 337 |
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| abstract_inverted_index.level | 627 |
| abstract_inverted_index.novel | 371 |
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| abstract_inverted_index.solid | 143, 547 |
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| abstract_inverted_index.their | 300 |
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| abstract_inverted_index.third | 583 |
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| abstract_inverted_index.using | 370 |
| abstract_inverted_index.vitro | 391 |
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| abstract_inverted_index.whose | 23 |
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| abstract_inverted_index.1990s, | 102 |
| abstract_inverted_index.acids, | 54, 135 |
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| abstract_inverted_index.and/or | 75 |
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| abstract_inverted_index.common | 24 |
| abstract_inverted_index.direct | 205 |
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| abstract_inverted_index.future | 303, 672 |
| abstract_inverted_index.ground | 317 |
| abstract_inverted_index.hamper | 266 |
| abstract_inverted_index.models | 467 |
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| abstract_inverted_index.silico | 388 |
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| abstract_inverted_index.steady | 619 |
| abstract_inverted_index.study, | 377 |
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| abstract_inverted_index.timing | 545 |
| abstract_inverted_index.(OADs), | 4 |
| abstract_inverted_index.Despite | 214 |
| abstract_inverted_index.Disease | 288, 336, 652 |
| abstract_inverted_index.Journal | 284, 332, 648 |
| abstract_inverted_index.Organic | 0 |
| abstract_inverted_index.altered | 68 |
| abstract_inverted_index.chronic | 76 |
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| abstract_inverted_index.enzymes | 436 |
| abstract_inverted_index.experts | 294, 598 |
| abstract_inverted_index.focuses | 412 |
| abstract_inverted_index.genetic | 191, 351 |
| abstract_inverted_index.history | 181 |
| abstract_inverted_index.invited | 292 |
| abstract_inverted_index.kidney) | 147 |
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| abstract_inverted_index.newborn | 109 |
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| abstract_inverted_index.patient | 173, 600 |
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| abstract_inverted_index.prevent | 512 |
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| abstract_inverted_index.ranging | 128 |
| abstract_inverted_index.safety, | 542 |
| abstract_inverted_index.special | 280, 644 |
| abstract_inverted_index.stress, | 64 |
| abstract_inverted_index.studies | 399 |
| abstract_inverted_index.therapy | 92, 154, 158, 207, 251, 509 |
| abstract_inverted_index.through | 485 |
| abstract_inverted_index.trials. | 167 |
| abstract_inverted_index.variety | 121 |
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| abstract_inverted_index.Finally, | 602 |
| abstract_inverted_index.McCorvie | 427 |
| abstract_inverted_index.Research | 85 |
| abstract_inverted_index.aciduria | 8, 365, 402, 499, 589 |
| abstract_inverted_index.advanced | 89 |
| abstract_inverted_index.affected | 94 |
| abstract_inverted_index.articles | 530 |
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| abstract_inverted_index.cellular | 464 |
| abstract_inverted_index.clinical | 166, 219, 612, 675 |
| abstract_inverted_index.coenzyme | 51 |
| abstract_inverted_index.cofactor | 136, 450 |
| abstract_inverted_index.decipher | 470 |
| abstract_inverted_index.dedicate | 278 |
| abstract_inverted_index.delivery | 446 |
| abstract_inverted_index.demand.2 | 84 |
| abstract_inverted_index.diseases | 22, 312 |
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| abstract_inverted_index.enzymes. | 454 |
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| abstract_inverted_index.explores | 564 |
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| abstract_inverted_index.impaired | 65 |
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| abstract_inverted_index.included | 107 |
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| abstract_inverted_index.medicine | 324 |
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| abstract_inverted_index.reducing | 96 |
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| abstract_inverted_index.Inherited | 286, 334, 650 |
| abstract_inverted_index.Metabolic | 287, 335, 651 |
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| abstract_inverted_index.aciduria, | 15, 477, 528 |
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| abstract_inverted_index.articles, | 408, 560 |
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| abstract_inverted_index.breakdown | 49 |
| abstract_inverted_index.combining | 386 |
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| abstract_inverted_index.diagnosis | 90 |
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| abstract_inverted_index.emergency | 140 |
| abstract_inverted_index.evaluated | 164 |
| abstract_inverted_index.expertise | 660 |
| abstract_inverted_index.follow-up | 209 |
| abstract_inverted_index.following | 407, 555 |
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| abstract_inverted_index.hopefully | 665 |
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| abstract_inverted_index.medicine, | 273 |
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| abstract_inverted_index.mitophagy | 66 |
| abstract_inverted_index.modelling | 392 |
| abstract_inverted_index.molecular | 185 |
| abstract_inverted_index.mortality | 97 |
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| abstract_inverted_index.oxidative | 63 |
| abstract_inverted_index.potential | 360 |
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| abstract_inverted_index.presented | 531 |
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| abstract_inverted_index.screening | 110 |
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| abstract_inverted_index.Chakrapani | 537 |
| abstract_inverted_index.Innovative | 149 |
| abstract_inverted_index.Martinelli | 533 |
| abstract_inverted_index.Schuurmans | 343 |
| abstract_inverted_index.acidaemias | 3 |
| abstract_inverted_index.chaperones | 438 |
| abstract_inverted_index.cobalamin, | 448 |
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| abstract_inverted_index.directions | 304 |
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| abstract_inverted_index.morbidity. | 99 |
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| abstract_inverted_index.predictive | 383 |
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| abstract_inverted_index.strategies | 124, 150 |
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| abstract_inverted_index.anaplerosis | 484 |
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| abstract_inverted_index.fascinating | 307 |
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| abstract_inverted_index.observation | 170 |
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| abstract_inverted_index.programmes, | 111 |
| abstract_inverted_index.progression | 514 |
| abstract_inverted_index.replacement | 157 |
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| abstract_inverted_index.understood, | 235 |
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| abstract_inverted_index.conservative | 508 |
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| abstract_inverted_index.established, | 127 |
| abstract_inverted_index.improvement. | 255 |
| abstract_inverted_index.individuals, | 95 |
| abstract_inverted_index.interactions | 474 |
| abstract_inverted_index.irreversible | 519 |
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| abstract_inverted_index.neurological | 553 |
| abstract_inverted_index.personalised | 250, 321 |
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| institutions_distinct_count | 2 |
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