BTD, biotinidase, 686

N. diseases: 90; N. variants: 192
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2937225
Disease: Biotin deficiency disease
Biotin deficiency disease
0.020 GeneticVariation disease BEFREE <b>Aim:</b> Severe biotin deficiency associated with biotinidase enzyme deficiency in newborns is seen as severe neurological problems and hearing loss. 31124733 2019
CUI: C2937225
Disease: Biotin deficiency disease
Biotin deficiency disease
0.020 Biomarker disease BEFREE Biotin deficiency may be due to congenital lack of biotinidase, or acquired following some conditions that interfere with its absorption, such as inflammatory bowel disorders, a diet too rich in avidin, magnesium deficiency, smoking habit and treatment with broad-spectrum antibiotics, anticonvulsants and sulfonamides. 31638351 2019