Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Abstract: Background
Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment. The long-term natural history of NBS LCFAOD patients is largely unknown and may differ from clinically diagnosed pre-NBS patients. This complicates long-term monitoring of LCFAOD and may cause high monitoring variability. To gain insight in current clinical practice, we performed a web-based questionnaire among all metabolic members of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).
Results
Thirty-seven colleagues representing at least 35 European metabolic centres shared their experience and results were discussed at the European Metabolic Group (EMG) meeting 2022. The centres concurred in many aspects of long-term monitoring of LCFAOD including the frequency of clinical visits, determination of laboratory parameters, cardiac monitoring and retinopathy screening. Main discrepancies comprised hepatic imaging, glucose monitoring and electrophysiological investigations.
Conclusions
Discrepancies may reflect differences in local availability of monitoring tools, the inclusion of LCFAOD in NBS programs as well as differences in local genotypes and phenotypes. Because monitoring strategies are largely based on the natural disease course of clinically identified patients, there might be over-monitoring of some NBS patients. Nevertheless, we advocate long-term monitoring because resulting information is essential to further characterize the natural disease course, develop evidence-based guidelines and provide a basis for evaluation of future therapies
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
Orphanet journal of rare diseases :. - 19, 1 (2024) , 21, ISSN: 1750-1172
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2024
- Urheber
- DOI
-
10.1186/s13023-024-03024-0
- URN
-
urn:nbn:de:bsz:25-freidok-2440674
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:48 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Schwantje, Marit
- Grünert, Sarah
- Fuchs, Sabine
- Universität
Entstanden
- 2024
Ähnliche Objekte (12)
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Organoazidopathien im Blickpunkt des Neugeborenen-Screenings - Wandel des klinischen Phänotyps und kritische Aspekte des Screenings
Isovalerianazidämie : Klinik, Pathobiochemie und Therapie am Beispiel von 28 Patienten
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Organoazidopathien im Blickpunkt des Neugeborenen-Screenings - Wandel des klinischen Phänotyps und kritische Aspekte des Screenings
Isovalerianazidämie : Klinik, Pathobiochemie und Therapie am Beispiel von 28 Patienten
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Organoazidopathien im Blickpunkt des Neugeborenen-Screenings - Wandel des klinischen Phänotyps und kritische Aspekte des Screenings
Isovalerianazidämie : Klinik, Pathobiochemie und Therapie am Beispiel von 28 Patienten
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire