كمبود آنزيم بيوتينيداز و گزارش 3 مورد تشخيص داده شده آن در بيمارستان مفيد

Biotinidas deficiency and report Of 3 cases

Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive trait. The clinical manifestations of the disease are, lactic acidosis, alopecia, ataxia, spastic paraplegia, seizure and developmental delay. Other clinical features are erythematous rash, hearing and visual loss. In this 4 article we report 3 patients with complete biotinidase deficiency. first patient was an Infant (3 mouths old-male) and second patient was an infant (5months old-male) that both of them referred for developmental delay, seizure, alopecia and spastic paraplegia. Laboratory exam showed hyper ammonia, lactic acidosis and the level of Biotinidase was remarkable defficient. All of the symptoms and signs was improved with Biotin. The third patient (8 months old-female) referred for developmental delay and erythematous rash around the orifices. The laboratory exam showed Biotinidas deficiency and all of the symptoms improved with Biotin.