نتایج جستجو برای: pyridoxine depended seizures
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The association of dietary pyridoxine deficiency and convulsions was first noted in animal experiments by Chick, El Sadr and Worden (1940). An analogous situation in humans was recognized when Snyderman, Carretero and Holt (1950) described the onset of seizures in a mentally retarded child whose diet lacked this vitamin. Shortly afterwards, an outbreak of convulsions in young infants in the Uni...
BACKGROUND Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6' carboxylate and pipecolic acid. Beside ne...
Vitamin B6 (pyridoxine) is closely associated with the functions of the nervous, immune and endocrine systems. It also participates in the metabolic processes of proteins, lipids and carbohydrates. Pyridoxine deficiency may result in neurological disorders including convulsions and epileptic encephalopathy and may lead to infant abnormalities. The Intravenous administration of pyridoxine to pat...
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. The clinical expression of the disease is variable. Six forms of HPP are identified according to age at presentation and clinical features. Patients with the infantile for...
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