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van Rijt, W.J.* ; Jager, E.A.* ; Allersma, D.P.* ; Aktuğlu Zeybek, A.C.* ; Bhattacharya, K.* ; Debray, F.G.* ; Ellaway, C.J.* ; Gautschi, M.* ; Geraghty, M.T.* ; Gil-Ortega, D.* ; Larson, A.A.* ; Moore, F.* ; Morava, E.* ; Morris, A.A.* ; Oishi, K.* ; Schiff, M.* ; Scholl-Bürgi, S.* ; Tchan, M.C.* ; Vockley, J.* ; Witters, P.* ; Wortmann, S.B. ; van Spronsen, F.* ; van Hove, J.L.K.* ; Derks, T.G.J.*

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Genet. Med. 22, 908–916 (2020)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Purpose Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. Case reports described successful D,L-3-hydroxybutyrate (D,L-3-HB) treatment in severely affected MADD patients, but systematic data on efficacy and safety is lacking. Methods A systematic literature review and an international, retrospective cohort study on clinical presentation, D,L-3-HB treatment method, and outcome in MADD(-like) patients. Results Our study summarizes 23 MADD(-like) patients, including 14 new cases. Median age at clinical onset was two months (interquartile range [IQR]: 8 months). Median age at starting D,L-3-HB was seven months (IQR: 4.5 years). D,L-3-HB doses ranged between 100 and 2600 mg/kg/day. Clinical improvement was reported in 16 patients (70%) for cardiomyopathy, leukodystrophy, liver symptoms, muscle symptoms, and/or respiratory failure. D,L-3-HB appeared not effective for neuropathy. Survival appeared longer upon D,L-3-HB compared with historical controls. Median time until first clinical improvement was one month, and ranged up to six months. Reported side effects included abdominal pain, constipation, dehydration, diarrhea, and vomiting/nausea. Median D,L-3-HB treatment duration was two years (IQR: 6 years). D,L-3-HB treatment was discontinued in 12 patients (52%). Conclusion The strength of the current study is the international pooling of data demonstrating that D,L-3-HB treatment can be effective and safe in MADD(-like) patients.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter D,l-3-hydroxybutyrate Treatment ; Fatty Acid Oxidation ; Inborn Error Of Metabolism ; Ketone Bodies ; Multiple Acyl-coa Dehydrogenase Deficiency; Beta-hydroxybutyrate; Ketone-bodies; Glucose-metabolism
ISSN (print) / ISBN 1530-0366
e-ISSN 1098-3600
Zeitschrift Genetics in Medicine
Quellenangaben Band: 22, Heft: , Seiten: 908–916 Artikelnummer: , Supplement: ,
Verlag Lippincott Williams & Wilkins
Verlagsort Baltimore, Md.
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)