Article ; Online: Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Annals of clinical and translational neurology
2024 Volume 11, Issue 4, Page(s) 883–898
Abstract: Objective: This study aims to elucidate the long-term benefit of newborn screening (NBS) for individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases ... ...
| Abstract | Objective: This study aims to elucidate the long-term benefit of newborn screening (NBS) for individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included in NBS programs worldwide. Methods: German national multicenter study of individuals with confirmed LCHAD/MTP deficiency identified by NBS between 1999 and 2020 or selective metabolic screening. Analyses focused on NBS results, confirmatory diagnostics, and long-term clinical outcomes. Results: Sixty-seven individuals with LCHAD/MTP deficiency were included in the study, thereof 54 identified by NBS. All screened individuals with LCHAD deficiency survived, but four with MTP deficiency (14.8%) died during the study period. Despite NBS and early treatment neonatal decompensations (28%), symptomatic disease course (94%), later metabolic decompensations (80%), cardiomyopathy (28%), myopathy (82%), hepatopathy (32%), retinopathy (17%), and/or neuropathy (22%) occurred. Hospitalization rates were high (up to a mean of 2.4 times/year). Disease courses in screened individuals with LCHAD and MTP deficiency were similar except for neuropathy, occurring earlier in individuals with MTP deficiency (median 3.9 vs. 11.4 years; p = 0.0447). Achievement of dietary goals decreased with age, from 75% in the first year of life to 12% at age 10, and consensus group recommendations on dietary management were often not achieved. Interpretation: While NBS and early treatment result in improved (neonatal) survival, they cannot reliably prevent long-term morbidity in screened individuals with LCHAD/MTP deficiency, highlighting the urgent need of better therapeutic strategies and the development of disease course-altering treatment. |
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| MeSH term(s) | Humans ; Infant, Newborn ; Cardiomyopathies ; Fatty Acids/metabolism ; Lipid Metabolism, Inborn Errors/diagnosis ; Lipid Metabolism, Inborn Errors/therapy ; Lipid Metabolism, Inborn Errors/metabolism ; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase/metabolism ; Mitochondrial Myopathies ; Mitochondrial Trifunctional Protein/metabolism ; Mitochondrial Trifunctional Protein/deficiency ; Nervous System Diseases ; Rhabdomyolysis ; Infant ; Child, Preschool ; Child |
| Chemical Substances | Fatty Acids ; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase (EC 1.1.1.211) ; Mitochondrial Trifunctional Protein (EC 2.3.1.16) |
| Language | English |
| Publishing date | 2024-01-23 |
| Publishing country | United States |
| Document type | Multicenter Study ; Journal Article |
| ZDB-ID | 2740696-9 |
| ISSN | 2328-9503 ; 2328-9503 |
| ISSN (online) | 2328-9503 |
| ISSN | 2328-9503 |
| DOI | 10.1002/acn3.52002 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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