Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.5.1.12 (biotinidase)
 392 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Biotinidase has been purified from human serum to a specific activity of 1900 units/mg protein by a five-step procedure. After ammonium sulfate precipitation (33-55% cut) it was purified by DEAE-Sephacel, hydroxylapatite, octyl-Sepharose CL-4B, and Sephadex G-100 chromatography. The purified enzyme showed a single silver staining band with polyacrylamide gel electrophoresis under denaturing and non-denaturing conditions. Biotinidase is a glycoprotein. The sialic acid residues in the molecule are not required for enzyme activity. The Mr of human serum biotinidase estimated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Ferguson plot) and by sedimentation analysis was 68,000. Human serum biotinidase showed maximum activity in the pH range 6.0 to 7.5 with N-(d-biotinyl) p-aminobenzoate as substrate. However, with biocytin as substrate, the maximal activity of the enzyme was in the pH range 4.5 to 6.0. Using structural analogs of the substrate we have shown that biotinidase is not a general proteolytic enzyme and has specific structural requirements in the substrate for hydrolysis.
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PMID:Purification and characterization of human serum biotinidase. 394 11

We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different diseases associate similar neurological and macroscopic aspect of the hair (biotinidase deficiency, argininosuccinic aciduria, aminoaciduria, giant axonal neuropathy, trichothiodistrophy and Menkes syndrome). The microscopic aspect of the patient's hair showing normal hair, silver colored hair, hair shafts twisting 1800, trichoclasis, and trichoptilosis, was highly characteristic for Menkes disease. Diagnosis was further supported by the low concentration of serum copper and ceruloplasmin and exclusion of other metabolic disorders with similar macroscopic aspect of the hair. Molecular genetic testing by multiplex PCR indicated deletion of exon 22 in the ATP7A gene situated in Xq21.1 region, consistent with the clinical and biochemical phenotype. Physicians should use microscopic evaluation of the hair more often when suspicion of Menkes disease is raised, aiming a narrow further diagnostic workup and early positive diagnosis and genetic advice for the affected families.
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PMID:Role of optic microscopy for early diagnosis of Menkes disease. 2532 26