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Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy

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Excerpt

The diagnosis and treatment of cryptogenic treatment-resistant epilepsy can pose considerable challenges. On occasion, seizures and other neurological symptoms can manifest as initial signs of inherited metabolic disorders (IMDs), also referred to as inborn errors of metabolism (IEMs). These are heterogeneous genetic disorders caused by enzyme deficiencies within the metabolic pathways. Some of these disorders have distinct treatments that may improve symptoms and prognosis for certain patients. Certain IMDs might only become apparent in adulthood. We present a case of a patient who developed symptoms of Vitamin B12-responsive methylmalonic acidemia (MMA) and exhibited neurological symptoms such as seizures, status epilepticus, leukoencephalopathy and myelopathy, at an extraordinarily advanced age. …
Title
Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy
Authors
Michael Bayat
Sándor Beniczky
Jan Lykke Scheel Thomsen
Publication date
22-12-2023
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 5/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-023-07270-1
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