Bacterial Biotinidase
نویسندگان
چکیده
منابع مشابه
Biotinidase deficiency.
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.
متن کاملOptic neuritis in a child with biotinidase
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...
متن کاملA qualitative assessment of biotinidase deficiency.
Screening programs for late-onset, biotin-responsive, multiple carboxylase deficiency (LMCD) detect colormetrically the presence of biotinidase activity in dried samples of whole-blood spotted on filter-papers as used in the neonatal screening of phenylketonuria. A sensitive and stable qualitative technique is described using 10 microliter of serum that avoids problems associated with poor samp...
متن کاملBiotinidase deficiency with hypertonia as unusual feature.
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.
متن کاملAuditory Neuropathy/Dyssynchrony in Biotinidase Deficiency
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emis...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1963
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)81255-8