Pyridoxine responsive epilepsy: expanded pyridoxine dependency?
نویسندگان
چکیده
منابع مشابه
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.
OBJECTIVE To study the epidemiology of pyridoxine dependent seizures and other forms of pyridoxine responsive seizures. DESIGN Monthly notifications to the British Paediatric Surveillance Unit over two years. Questionnaire follow up. SETTING UK and the Republic of Ireland. PATIENTS Children aged 15 years or younger whose seizures respond to pyridoxine. INTERVENTIONS None. MAIN OUTCOME...
متن کاملFormiminotransferase activity of liver from mice with pyridoxine deficiency.
Recently we have encountered an infant of formiminotransferase deficiency syndrome associated with megaloblastic pyridoxine responsive anemia of congenital origin.1 In 1966 Vitale et al.2 reported that formiminotransferase activity of the liver was markedly decreased in rats with iron deficiency and suggested a possibility of requirement of iron for function and/or formation of formiminotransfe...
متن کاملPyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased in molybdenum cofactor and sulfite oxidase deficiencies. The seizures in pyridoxine-dependent epilepsy are cause...
متن کاملEpidemiology of pyridoxine dependent seizures in the Netherlands.
BACKGROUND Pyridoxine dependent epilepsy is a rare cause of seizures in childhood. The diagnosis is made on clinical criteria, that in many cases are never met. Therefore, epidemiological data on pyridoxine dependency are scarce. AIMS To study the epidemiology of pyridoxine dependent epilepsy in the Netherlands, and to determine whether the diagnosis is based on the appropriate criteria. ME...
متن کاملEpilepsy in inborn errors of metabolism.
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances. Although epilepsy in IEM can be classified in various ways according to pathogenesis, age of onset, or electroclinical presentation, the...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 58 12 شماره
صفحات -
تاریخ انتشار 1983