Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.

A Treatable Refractory Epilepsy: A Case Report

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...

معرفی یک مورد کمبود بیوتینیداز با تظاهرات پوستی مشابه آکرودرماتیت انتروپاتیکا

Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...

Early Diagnosis and Intervention for Hearing Loss in Newborns Discharged from Intensive Care Units: a Four-year Follow-up Study in North of Iran

Background Hearing loss is the most common congenital disorder the incidence of which is further increased in the presence of risk factors for hearing loss among newborns admitted to the neonatal intensive care unit (NICU). The aim of this study was early diagnosis and intervention for hearing loss in newborns discharged from NICU. Materials and Methods This prospective cohort study was conduct...

Etiology and outcome of inborn errors of metabolism.

OBJECTIVES To study the clinical presentation, diagnostic workup and outcome of children presenting with suspected inborn errors of metabolism. METHODS The cross-sectional study was conducted at the Shifa International Hospital, Islamabad, and included all patients diagnosed with the condition between January 2006 and June 2011. Medical records of the patients were reviewed to collect the rel...

Biotinidase deficiency in Pakistani children; what needs to be known and done.