Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Repeated evaluation of biotinidase (BTD) activity was carried out for a long-term follow-up in patients with hepatic glycogen storage diseases (GSDs). The results indicated inter-intra variability among the GSD-Ia, GSD-III and GSD-IX patients. In addition, a c.1330G>C transversion in the BTD gene, resulting in a p.Asp444His substitution was detected in one allele of a GSD-Ia patient with sustained normal enzyme activity. Thus far, it is necessary to be cautious in the interpretation of the results of BTD activity as a presumptive GSD diagnostic element. It is not known why plasma BTD activity increases in GSDs patients, or the clinical importance of the increment. When viewed from a global perspective, there are some lines of biotin biology that could indicate a relationship between BTD´s behavior and GSDs.
Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina. celiangaroni@hotmail.com
Celia J
CJ
Angaroni
Alicia N
AN
Giner-Ayala
Lorena P
LP
Hill
Norberto B
NB
Guelbert
Ana E
AE
Paschini-Capra
Raquel
R
Dodelson de Kremer
D001118:Argentina; D015415:Biomarkers / Q000097:blood; D043523:Biotinidase / Q000097:blood* / Q000235:genetics; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005838:Genotype; D006008:Glycogen Storage Disease / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology; D006010:Glycogen Storage Disease Type III / Q000201:enzymology; D006801:Humans; D008099:Liver / Q000201:enzymology*; D009154:Mutation; D010641:Phenotype; D015854:Up-Regulation
D015415:Biomarkers; D043523:Biotinidase