نتایج جستجو برای: biotinidase deficiency
تعداد نتایج: 137210 فیلتر نتایج به سال:
how to cite this article: karimzadeh p, ahmadabadi f, jafari n, jabbehdari s, alaee mr, ghofrani m, taghdiri mm, tonekaboni sh. biotinidase deficiency: a reversible neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 autumn; 7(4):47- 52. objective biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. if...
Biotinidase deficiency is a hereditary metabolic disease with varied phenotypic expression in which there is a defect in the metabolism of biotin. The symptoms of the classic form are often neurological and in the skin, with possible sequelae such as auditory and visual disorders, and motor development and language delay. These manifestations are usually irreversible, even after treatment, whic...
A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.
introduction biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. we report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. with a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. rapid treatment was life-savin...
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes....
We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored. ...
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