The BTD gene codes for production of biotinidase, the enzyme responsible for helping the body reuse and recycle the biotin found in foods. Biotinidase deficiency is an autosomal recessively inherited disorder resulting in the inability to recycle the vitamin biotin and affects approximately 1 in 60,000 newborns. If untreated, the depletion of intracellular biotin leads to impaired activities of...

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. ...

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...

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...

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 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...

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...