• 作者：Marí ; a Luz Couce^a ; Celia Pé ; rez-Cerd&#225 ; ^b ; ^c ; ^{cpcerda@cbm.uam.es} ; Marí ; a Teresa Garcí ; a Silva^d ; Angels Garcí ; a Cazorla^c ; ^e ; Elena Martí ; n-Hern&#225 ; ndez^d ; Daisy Castiñ ; eiras^a ; Merç ; è ; Pineda^c ; ^e ; Rosa Navarrete^b ; ^c ; Jaume Campistol^c ; ^e ; José ; Marí ; a Fraga^a ; Belé ; n Pé ; rez^b ; ^c ; Magdalena Ugarte^b ; ^c
• 关键词：Enfermedad metabó ; lica hereditaria ; Cribado neonatal ; Sordera ; Convulsiones sensibles a biotina ; Mutaciones
• 刊名：Medicina Cl铆nica
• 出版年：2011
• 期刊代码：pca254_00257753
• 类别：med
• 出版时间：22 October 2011
• 卷：137
• 期：11
• 页码：500-503
• 文件大小：164 K

Background and objetive

To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency.

Patients and method

Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease.

Results

No patient detected by neonatal screening had symptoms and only one case with partial biotinidase activity developed myoclonic seizures that resolved with biotin. More common mutations found among this group were p.D444H and the double mutation [p.D444H;p.A171T]. However, neurological and hearing manifestations predominated among the six symptomatic cases and mutations p.L32fs, p.G34fs, p.T401I, p.D444H, p.T532 M and the novel one p.L466fs were identified. Patients with profound biotinidase deficiency and/or clinical signs were treated with pharmacological doses of biotin (10-30 mg daily).

Conclusion

Biotinidase deficiency must be included in the newborn screening programmes in order to begin early treatment even in partial forms. Different mutations found in both series of patients suggest that routine genetic procedure of the BTD gene by direct sequencing might be useful to assign patients to the partial or profound form of the disease.