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Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze1, Alina Ottenberger1, Florian Gleich1
1Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Annals of Clinical and Translational Neurology
|January 24, 2024
Summary
Newborn screening improves survival for long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency. However, early detection does not prevent long-term health problems, emphasizing the need for better treatments.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency are inherited metabolic disorders.
- These conditions are included in newborn screening (NBS) programs globally.
- Early diagnosis and intervention are crucial for managing these rare diseases.
Purpose of the Study:
- To evaluate the long-term benefits of newborn screening (NBS) for LCHAD and MTP deficiency.
- To assess clinical outcomes and morbidity in individuals identified through NBS.
- To identify areas for improvement in therapeutic strategies for LCHAD/MTP deficiency.
Main Methods:
- A German national multicenter study included individuals with confirmed LCHAD/MTP deficiency.
- Data were collected from individuals identified via NBS between 1999 and 2020 and through selective metabolic screening.
- Analyses focused on NBS results, diagnostic confirmation, and long-term clinical outcomes.
Main Results:
- Fifty-four of 67 individuals with LCHAD/MTP deficiency were identified by NBS.
- While NBS improved survival, 14.8% of MTP deficiency cases were fatal.
- High rates of neonatal decompensation (28%), symptomatic disease (94%), cardiomyopathy (28%), myopathy (82%), and hepatopathy (32%) were observed despite early treatment.
Conclusions:
- Newborn screening and early treatment enhance neonatal survival for LCHAD/MTP deficiency.
- Current management strategies do not reliably prevent long-term morbidity.
- There is an urgent need for improved therapeutic interventions and disease-modifying treatments.
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