biotinidase deficiency/carbohydrate

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Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.

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BACKGROUND Biotinidase deficiency (BTD) is an autosomal recessive disorder of biotin metabolism. Biotin is a coenzyme that enhances the action of the four enzymes that play an important role in carbohydrates, amino acid, and fatty acid metabolism. Defects in these pathways cause severe metabolic

[West's syndrome. Analysis, aetiological factors and therapeutic options].

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West's syndrome (WS), which is also known as infantile myoclonic encephalopathy with hypsarrhythmia, is one of the generalized epileptic syndromes with a cryptogenic or symptomatic origin. It is an age-dependent epileptic syndrome. The latest neuroimaging techniques have enabled us to gain a better

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