Abstract：Biotinidase deficiency (BTD) is an autosomal recessive disease. It is caused by the biotinidase gene mutation encoding biotinidase, which causes the complete or partial deficiency of biotinidase activity, resulting in the decrease of biotin, the decrease of the activity of various biotin-dependent carboxylases, the disorder of mitochondrial energy synthesis, metabolic acidosis, organic aciduria and a series of neurological and skin system damage. The clinical manifestations of this disease are complex, individual differences are very large, which can easily lead to missed diagnosis and misdiagnosis. One 11-year-old male patient was admitted to Gansu Children's Hospital, Lanzhou University Second Hospital. The main symptoms were weakness of both upper limbs and spastic paralysis of both lower limbs, and decreased vision. The patient was initially diagnosed as a disease of optic neuromyelitis pedigree, but the effect of immunotherapy was not good. After blood and urine genetic metabolic disease screening and gene testing, the patient was finally diagnosed as biotinidase deficiency, and the symptoms of the patient were relieved after supplementation of biotinidase. Biotinidase deficiency often leads to serious nervous system damage, and biotin supplementation therapy can play a good role. Therefore, early screening and early diagnosis and treatment of this disease is the key to improve the prognosis.
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