We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.

A more than 20000-fold purification of human serum lipoamidase is described. This was accomplished by (NH4)2SO4 precipitation and chromatography on DEAE-Sepharose, Blue Sepharose CL-6B and phenyl-Sepharose CL-4B, followed by preparative isoelectric focusing (IEF) and finally by gel-permeation chromatography. Co-precipitation and co-chromatography of lipoamidase and biotinidase activities with e...

Biotin is a water-soluble vitamin that functions as a cofactor for biotin-dependent carboxylases. The biochemical and physiological roles of biotin in brain regions have not yet been investigated sufficiently in vivo. Thus, in order to clarify the function of biotin in the brain, we herein examined biotin contents, biotinylated protein expression (e.g. holocarboxylases), and biotin-related gene...

how to cite this article: karimzadeh p, ahmadabadi f, jafari n, jabbehdari s, alaee mr, ghofrani m, taghdiri mm, tonekaboni sh. biotinidase deficiency: a reversible neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 autumn; 7(4):47- 52.   objective biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. if...

In this automated procedure for quantifying biotinidase activity in human serum, a manual colorimetric method that measures conversion of the enzyme's artificial substrate N-biotinyl p-aminobenzoate was modified for use with a Technicon AutoAnalyzer II. The intra-run replicate precision (CV) was 2.1% and the day-to-day CV was 4.6% for quality-control sera. Results were linearly related to bioti...

The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and t...

A simple and reliable method for quantification of biotinidase (EC.3.5.1.12) activity in dried blood spot was devised by a modification of the colorimetric screening test developed by Heard et al. (1984). The enzyme reaction and hemoglobin denaturation were carried out in a U-bottomed microplate. An aliquot of the reaction solution was transferred to a flat-bottomed microplate. After the coupli...