Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
Abstract: Background
Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.
Results
We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister’s having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel.
Conclusion
As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
Orphanet journal of rare diseases. - 15, 1 (2020) , 87, ISSN: 1750-1172
- Schlagwort
-
Carnitin
Herzmuskelkrankheit
Herztransplantation
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2020
- DOI
-
10.1186/s13023-020-01371-2
- URN
-
urn:nbn:de:bsz:25-freidok-1655200
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
25.03.2025, 13:47 MEZ
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Beteiligte
Entstanden
- 2020
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