Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in other disorders with impaired ketogenesis or in co...
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| Published in | Molecular genetics and metabolism reports Vol. 40; p. 101104 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.09.2024
Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 2214-4269 2214-4269 |
| DOI | 10.1016/j.ymgmr.2024.101104 |
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| Abstract | Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in other disorders with impaired ketogenesis or in conditions that profit from a ketogenic diet. Here, we report the use of a novel preparation of dextro-β-hydroxybutyrate (D-βHB) salts in two cases of MADD and one case of pyruvate dehydrogenase (PDH) deficiency (MIM#312170). The two patients with MADD had previously been on a racemic mixture of D- and L‑sodium hydroxybutyrate. Patient #1 found D-βHB more palatable, and the change in formulation corrected hypernatraemia in patient #2. The patient with PDH deficiency was on a ketogenic diet but had not previously been given hydroxybutyrate. In this case, the addition of D-βHB improved ketosis. We conclude that NHS101 is a good candidate for further clinical studies in this group of diseases of inborn errors of metabolism. |
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| AbstractList | Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in other disorders with impaired ketogenesis or in conditions that profit from a ketogenic diet. Here, we report the use of a novel preparation of dextro-β-hydroxybutyrate (D-βHB) salts in two cases of MADD and one case of pyruvate dehydrogenase (PDH) deficiency (MIM#312170). The two patients with MADD had previously been on a racemic mixture of D- and L‑sodium hydroxybutyrate. Patient #1 found D-βHB more palatable, and the change in formulation corrected hypernatraemia in patient #2. The patient with PDH deficiency was on a ketogenic diet but had not previously been given hydroxybutyrate. In this case, the addition of D-βHB improved ketosis. We conclude that NHS101 is a good candidate for further clinical studies in this group of diseases of inborn errors of metabolism. Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in other disorders with impaired ketogenesis or in conditions that profit from a ketogenic diet. Here, we report the use of a novel preparation of dextro-β-hydroxybutyrate (D-βHB) salts in two cases of MADD and one case of pyruvate dehydrogenase (PDH) deficiency (MIM#312170). The two patients with MADD had previously been on a racemic mixture of D- and L‑sodium hydroxybutyrate. Patient #1 found D-βHB more palatable, and the change in formulation corrected hypernatraemia in patient #2. The patient with PDH deficiency was on a ketogenic diet but had not previously been given hydroxybutyrate. In this case, the addition of D-βHB improved ketosis. We conclude that NHS101 is a good candidate for further clinical studies in this group of diseases of inborn errors of metabolism.Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in other disorders with impaired ketogenesis or in conditions that profit from a ketogenic diet. Here, we report the use of a novel preparation of dextro-β-hydroxybutyrate (D-βHB) salts in two cases of MADD and one case of pyruvate dehydrogenase (PDH) deficiency (MIM#312170). The two patients with MADD had previously been on a racemic mixture of D- and L‑sodium hydroxybutyrate. Patient #1 found D-βHB more palatable, and the change in formulation corrected hypernatraemia in patient #2. The patient with PDH deficiency was on a ketogenic diet but had not previously been given hydroxybutyrate. In this case, the addition of D-βHB improved ketosis. We conclude that NHS101 is a good candidate for further clinical studies in this group of diseases of inborn errors of metabolism. |
| ArticleNumber | 101104 |
| Author | Cuenoud, Bernard Mundy, Helen Schwahn, Bernd C. Delerive, Philippe Morris, Andrew A.M. |
| Author_xml | – sequence: 1 givenname: Andrew A.M. surname: Morris fullname: Morris, Andrew A.M. organization: Manchester University NHS Foundation Trust, Manchester, UK – sequence: 2 givenname: Bernard surname: Cuenoud fullname: Cuenoud, Bernard organization: Nestlé Health Science, Avenue Nestlé 55., 1800 Vevy, Switzerland – sequence: 3 givenname: Philippe surname: Delerive fullname: Delerive, Philippe organization: Nestlé Health Science, Avenue Nestlé 55., 1800 Vevy, Switzerland – sequence: 4 givenname: Helen surname: Mundy fullname: Mundy, Helen organization: Evelina London Children's Healthcare, Guy's and St Thomas' NHS Foundation Trust, London, UK – sequence: 5 givenname: Bernd C. surname: Schwahn fullname: Schwahn, Bernd C. organization: Manchester University NHS Foundation Trust, Manchester, UK |
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| Cites_doi | 10.1016/j.ymgme.2007.09.020 10.1038/s41436-019-0739-z 10.1002/jimd.12217 10.1007/s10072-016-2549-2 10.1007/s10545-011-9434-1 10.1016/j.jacc.2020.12.065 10.1016/j.nut.2018.10.014 10.1007/s10545-016-0011-5 10.1097/MD.0000000000021944 10.1023/A:1012463726810 10.1038/s41598-019-46120-z 10.1146/annurev-nutr-111120-111518 10.1016/S0140-6736(03)13105-4 10.1074/jbc.C500213200 10.3390/genes12091334 10.3389/fnut.2020.00013 10.1007/s10545-005-5518-0 10.1007/s00467-007-0536-9 10.1016/j.cmet.2016.12.022 10.1016/j.yrtph.2012.04.008 10.1186/s13023-020-1316-x |
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| Keywords | D-βHB NR MRI ETFDH Ketone bodies D,L-βHB PICU Na PDH KB mg Glutaric aciduria II kg 6-MWT HIE ETFQO g CK FAD VLCAD IEM NAD β-Hydroxybutyrate ETF MADD Pyruvate dehydrogenase deficiency GRAS |
| Language | English |
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| Title | Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency |
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