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.
Angaroni
Celia J
CJ
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
Giner-Ayala
Alicia N
AN
Hill
Lorena P
LP
Guelbert
Norberto B
NB
Paschini-Capra
Ana E
AE
Dodelson de Kremer
Raquel
R
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