Biotin responsive limb weakness.

We report acute onset quadriplegia in a ten year old boy associated with basal ganglia lesions due to biotin deficiency. Prolonged raw egg consumption was identified as predisposing factor for biotin deficiency. Treatment with biotin resulted in remarkable recovery.

Biotinidase deficiency presenting with dermal manifestations of acrodermatitis enteropathica

Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impairment and immunodeficiency. With early diagnosis and treatment with biotin supplements, it is possible to prevent clinical manifestations and neurological deficits. We report a case of biotinidase deficiency with seizures, developmental delay, acrodermatitis enthropathica manifestations and mild compensated acidosis

Biotin deficiency causes alterations in glycosaminoglycans and glycoproteins in rat aorta.

Biotin deficiency produced by feeding raw egg white caused decrease in the concentration of many glycosaminoglycans (GAG) in the aorta in rats fed standard laboratory diet and atherogenic diet. This decrease has been observed to be due to the increased activity of enzymes involved in the degradation of GAG and glycohydrolases which cleave the carbohydrate components of glycoproteins.

Erros inatos do metabolismo e epilepsia / Inborn errors of metabolism and epilpsy

O autor revisa aqui erros inatos do metabolismo (EIM) que podem ter crises convulsivas entre suas manifestaçöes clínicas. Os mecanismos epileptogênicos distintos de cada EIM säo abordados ou ao menos sugeridos e, a seguir dá-se um roteiro de abordagem diagnóstica das convulsöes, com possível etiologia metabólica