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Weiss, K.J.* ; Berger, U.* ; Haider, M.* ; Wagner, M. ; Märtner, E.M.C.* ; Regenauer-Vandewiele, S.* ; Lotz-Havla, A.* ; Schuhmann, E.* ; Röschinger, W.* ; Maier, E.M.*

Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.

Clin. Genet. 103, 644-654 (2023)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
Biallelic variants in the ACADM gene cause medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This study reports on differences in the occurrence of secondary free carnitine (C0) deficiency and different biochemical phenotypes related to genotype and age in 109 MCADD patients followed-up at a single tertiary care center during 22 years. C0 deficiency occurred earlier and more frequently in c.985A>G homozygotes (genotype A) compared to c.985A>G compound heterozygotes (genotype B) and individuals carrying variants other than c.985A>G and c.199C>T (genotype D) (median age 4.2 vs. 6.6 years; p < 0.001). No patient carrying c.199C>T (genotype C) developed C0 deficiency. A daily dosage of 20-40 mg/kg carnitine was sufficient to maintain normal C0 concentrations. Compared to genotype A as reference group, octanoylcarnitine (C8) was significantly lower in genotypes B and C, whereas C0 was significantly higher by 8.28 μmol/l in genotype C (p < 0.05). In conclusion, C0 deficiency is mainly found in patients with pathogenic genotypes associated with high concentrations of presumably toxic acylcarnitines, while individuals carrying the variant c.199C>T are spared and show consistently mild biochemical phenotypes into adulthood. Low-dose carnitine supplementation maintains normal C0 concentrations. However, future studies need to evaluate clinical benefits on acute and chronic manifestations of MCADD. This article is protected by copyright. All rights reserved.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Acylcarnitines ; Biochemical Phenotype ; Medium-chain Acyl-coa Dehydrogenase Deficiency ; Newborn Screening ; Secondary Carnitine Deficiency; Mcad Deficiency; Prevalent Mutation; Inborn-errors; Metabolism; Diagnosis; Identification; Spectrum; G985; Gene
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Zeitschrift Clinical Genetics
Quellenangaben Band: 103, Heft: 6, Seiten: 644-654 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
DOI 10.1111/cge.14316
WOS ID 000947722400001
Scopus ID 85150634284
PubMed ID 36840705
Erfassungsdatum 2023-03-01
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