Time to harmonize mitochondrial syndrome nomenclature and classification : A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
Copyright © 2022 Elsevier Inc. All rights reserved..
OBJECTIVE: To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes.
METHODS: The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee comprised of members with diverse expertise. It included clinicians, researchers, diagnostic laboratory directors, statisticians, and data managers. The Committee conducted a comprehensive literature review, an evaluation of current clinical practices and diagnostic modalities, surveys, and teleconferences to reach consensus on syndrome definitions for mitochondrial diseases. The criteria were refined after manual application to patients enrolled in the NAMDC Registry.
RESULTS: By building upon published diagnostic criteria and integrating recent advances, NAMDC has generated updated consensus criteria for the clinical definition of classical mitochondrial syndromes.
CONCLUSIONS: Mitochondrial diseases are clinically, biochemically, and genetically heterogeneous and therefore challenging to classify and diagnose. To harmonize terminology, we propose revised criteria for the clinical definition of mitochondrial disorders. These criteria are expected to standardize the diagnosis and categorization of mitochondrial diseases, which will facilitate future natural history studies and clinical trials.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:136 |
|---|---|
| Enthalten in: |
Molecular genetics and metabolism - 136(2022), 2 vom: 15. Juni, Seite 125-131 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Emmanuele, Valentina [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Journal Article |
|---|
| Anmerkungen: |
Date Completed 14.06.2022 Date Revised 02.08.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.ymgme.2022.05.001 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM341287490 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM341287490 | ||
| 003 | DE-627 | ||
| 005 | 20231226011430.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ymgme.2022.05.001 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1137.xml |
| 035 | |a (DE-627)NLM341287490 | ||
| 035 | |a (NLM)35606253 | ||
| 035 | |a (PII)S1096-7192(22)00320-1 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Emmanuele, Valentina |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Time to harmonize mitochondrial syndrome nomenclature and classification |b A consensus from the North American Mitochondrial Disease Consortium (NAMDC) |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 14.06.2022 | ||
| 500 | |a Date Revised 02.08.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022 Elsevier Inc. All rights reserved. | ||
| 520 | |a OBJECTIVE: To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes | ||
| 520 | |a METHODS: The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee comprised of members with diverse expertise. It included clinicians, researchers, diagnostic laboratory directors, statisticians, and data managers. The Committee conducted a comprehensive literature review, an evaluation of current clinical practices and diagnostic modalities, surveys, and teleconferences to reach consensus on syndrome definitions for mitochondrial diseases. The criteria were refined after manual application to patients enrolled in the NAMDC Registry | ||
| 520 | |a RESULTS: By building upon published diagnostic criteria and integrating recent advances, NAMDC has generated updated consensus criteria for the clinical definition of classical mitochondrial syndromes | ||
| 520 | |a CONCLUSIONS: Mitochondrial diseases are clinically, biochemically, and genetically heterogeneous and therefore challenging to classify and diagnose. To harmonize terminology, we propose revised criteria for the clinical definition of mitochondrial disorders. These criteria are expected to standardize the diagnosis and categorization of mitochondrial diseases, which will facilitate future natural history studies and clinical trials | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a Mitochondrial DNA | |
| 650 | 4 | |a Mitochondrial disease | |
| 650 | 4 | |a Mitochondrial disorders | |
| 650 | 4 | |a Oxidative-phosphorylation | |
| 700 | 1 | |a Ganesh, Jaya |e verfasserin |4 aut | |
| 700 | 1 | |a Vladutiu, Georgirene |e verfasserin |4 aut | |
| 700 | 1 | |a Haas, Richard |e verfasserin |4 aut | |
| 700 | 1 | |a Kerr, Douglas |e verfasserin |4 aut | |
| 700 | 1 | |a Saneto, Russell P |e verfasserin |4 aut | |
| 700 | 1 | |a Cohen, Bruce H |e verfasserin |4 aut | |
| 700 | 1 | |a Van Hove, Johan L K |e verfasserin |4 aut | |
| 700 | 1 | |a Scaglia, Fernando |e verfasserin |4 aut | |
| 700 | 1 | |a Hoppel, Charles |e verfasserin |4 aut | |
| 700 | 1 | |a Rosales, Xiomara Q |e verfasserin |4 aut | |
| 700 | 1 | |a Barca, Emanuele |e verfasserin |4 aut | |
| 700 | 1 | |a Buchsbaum, Richard |e verfasserin |4 aut | |
| 700 | 1 | |a Thompson, John L |e verfasserin |4 aut | |
| 700 | 1 | |a DiMauro, Salvatore |e verfasserin |4 aut | |
| 700 | 1 | |a Hirano, Michio |e verfasserin |4 aut | |
| 700 | 0 | |a North American Mitochondrial Disease Consortium (NAMDC) |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular genetics and metabolism |d 1998 |g 136(2022), 2 vom: 15. Juni, Seite 125-131 |w (DE-627)NLM094798370 |x 1096-7206 |7 nnns |
| 773 | 1 | 8 | |g volume:136 |g year:2022 |g number:2 |g day:15 |g month:06 |g pages:125-131 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.ymgme.2022.05.001 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 136 |j 2022 |e 2 |b 15 |c 06 |h 125-131 | ||