Inborn errors of metabolism causing epilepsy
نویسندگان
چکیده
منابع مشابه
Inborn errors of metabolism causing epilepsy.
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in ...
متن کاملEpilepsy in inborn errors of metabolism
Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to specific treatment by diet or supplementation. However, in most, no such treatment is available and conventional antiepileptic drugs must be used, often with no great success. However, because uncontrolled epilepsy wil...
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...
متن کاملEpilepsy and inborn errors of metabolism: clinical and electroencephalographic features
Clinical and electroencephalographic phenotypes of the epilepsy in patients with inborn errors of metabolism are increasingly reported in the literature. The attempt to define several, disease-specific syndromes is a crucial point to allow early diagnosis and, when it is available, to perform a mirate treatment of the underlying disorder. Either dietary treatment or vitamin and cleasing agents ...
متن کاملGarrod's Inborn Errors of Metabolism
Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2012
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2012.04406.x