نتایج جستجو برای: biotinidase deficiency
تعداد نتایج: 137210 فیلتر نتایج به سال:
Correspondence: Ismail Shatriah Department of Ophthalmology School of Medical Sciences Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia Tel 6097676354 Fax 6097653370 Email [email protected] Abstract: Optic atrophy has often been reported in children with biotinidase deficiency. The visual prognosis is usually poor. This report is of a 6-year-old boy with an early onset of bio...
We describe a 3-year-old boy with biotin dependency not caused by biotinidase, holocarboxylase synthetase, or nutritional biotin deficiency. We sought to define the mechanism of his biotin dependency. The child became acutely encephalopathic at age 18 months. Urinary organic acids indicated deficiency of several biotin-dependent carboxylases. Symptoms improved rapidly following biotin supplemen...
OBJECTIVE Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmental delay and most of clinical manifestations. MATERIALS & METHODS The patients were diagnosed as biotinidase deficiency in Neurology Department of Mofid Children's H...
INTRODUCTION The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. METHODS All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilia...
Findings in an Infant with Biotinidase Deficiency A previously healthy 7-week-old male infant was admitted because of clonic movements of the upper limbs. Findings of a neurologic examination were normal. His psychomotor development was appropriate for his age. Brain MR imaging showed supraand infratentorial white matter signal-intensity abnormality, suggestive of edema, with frontal predominan...
We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.
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