Complete biotinidase deficiency

Patients with complete biotinidase deficiency usually present between 3 and 6 months of age, but severe illness has already been noted at the 2nd and 3rd week of life [9]. On the contrary, patients defined as having profound biotinidase deficiency, who have levels of residual activity as low as 1-3%, may never develop obvious clinical symptoms [17, 33], but may suffer from moderate biotin deficiency when carefully evaluated [25]. Biotin deficiency can be effectively avoided by oral... 

Activities obtained in plasma of (1) patients with profound biotinidase deficiency (less than 10% residual activity), (2) subjects with partial biotinidase deficiency (10-30% residual activity), (3) some of their parents (obligate heterozygotes) and (4) individual patients with a biotinidase Km defect are also shown in Table 3.7.2. Patients with complete biotinidase deficiency defined by assay with a sensitive HPLC method... 

Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S (1990) Comparison of patients with complete and partial biotinidase deficiency biochemical studies. J Inherit Metab Dis 13 76-92... 

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