[PS8-1D-1] Neurometabolic disorders: Biotinidase deficiency
Neurometabolic disorders is a group of genetic diseases affecting nervous system more than any other organs, and commonly with infantile and childhood onset. The most challenging issues are its significant overlapping phenotypes, different manifestation of the same disease, and restricted availability of treatment. Given the rapidly reducing cost of next generation sequencing, clinical exome analysis has become one the best opportunity for patients with neurometabolic disorder to reach correct diagnosis earlier, which lead to effective intervention. Clinician scientists also learn what we have not known before. We employed clinical exome in a number of patients with undiagnosed neurologic regression. One patient was confirmed to have biotinidasse deficiency. This case suggests the expanded phenotypes of biotinidase deficiency which include regression of psychomotor development and stereotypic hand movement. The patient’s neurological manifestations have been dramatically improved after treatment with high dose biotin (15 mg per day). Screening BTD gene mutation in selected population affected with neurodevelopmental problem is ongoing.