生物素酶缺乏症13例临床分析及随访OACSTPCD

Objective To investigate the clinical characteristics,diagnosis,treatment,and prognosis of biotini-dase deficiency(BTD).Methods Clinical data of 13 BTD patients were collected.Gas chromatography-mass spec-trometry(GC/MS)was used for urine organic acid analysis,peripheral blood biotinidase(BT)activity was measured,and polymerase chain reaction-direct sequencing was performed to detect mutations in each exon of the BT gene and its flanking sequences.Patients were followed up regularly.Results All 13 patients had mutations in the BT gene,inclu-ding 8 males and 5 females.The main clinical manifestations were recurrent hyperventilation(100％,13 cases),rash(61.5％,8 cases),and seizures(38.5％,5 cases).Urine GC/MS analysis in 12 patients(92.3％)showed elevated 3-hydroxyisovaleric acid,blood gas analysis indicated persistent metabolic acidosis and hyperlactatemia.All patients were treated with biotin,and metabolic disturbances were corrected within 48 hours.The follow-up duration ranged from 1 to 11 years with an average of(4.681±2.739)years.No metabolic abnormalities recurred,and physical and intellec-tual development were normal.Conclusion Recurrent skin and mucosal damage,hyperventilation,recurrent seizures,metabolic acidosis,and hyperlactatemia are the main clinical features of BTD.Suspected patients should undergo early screening for blood and urine metabolites and biotinidase activity testing.Early initiation of biotin therapy has a significant therapeutic effect,and long-term follow-up shows a good prognosis.