Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Between January 24, 1984, and December 31, 1988, 29 screening programs for biotinidase deficiency in newborns were established in 12 countries, and 4,396,834 newborns were screened. The worldwide incidence is based on screening programs in Australia, Austria, Canada, Italy, Japan, Mexico, New Zealand, Scotland, Spain, Switzerland, The United States, and West Germany. Biotinidase deficiency was detected in 72 newborns; 32 had profound biotinidase deficiency (less than 10% of mean normal activity level) and 40 had partial deficiency (10% to 30% of mean normal activity level). The combined incidence of profound and partial deficiency was 1 case per 61,067 live births (1:49 500 to 1:79 544; 95% confidence interval), the estimated frequency of the recessive allele was 0.0040, and the frequency of heterozygosity was estimated to be 1:123. Profound deficiency occurred in 1 per 137,401 live births (1:109,300 to 1:211,200), and partial deficiency in 1 per 109,921 live births (1:86,600 to 1:159,700). Most available parents of children with profound and partial deficiency had biotinidase activity levels intermediate between zero and mean normal activity levels. Six children with profound deficiency were symptomatic at, or soon after, the time of diagnosis; no infant with partial deficiency has become symptomatic, but little is known about the natural history of infants with partial deficiency. Most children whose biotinidase deficiency was detected by newborn screening were white, one was black, and one Hispanic; biotinidase deficiency has not been detected in Oriental children. Although 8 pilot programs have terminated, 21 will continue either indefinitely or until predetermined targets are reached, and 3 new programs were scheduled to begin in January 1989.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Screening for biotinidase deficiency in newborns: worldwide experience. 231 64

Biotinidase activities found in porcine brains (n = 3) were as follows: cerebrum, 4.4 +/- 0.2 pmol/min per milligram of protein; cerebellum, 7.6 +/- 0.3 pmol/min per milligram of protein; medulla, 2.9 +/- 0.3 pmol/min per milligram of protein. These values are relatively high compared with the activities in rat or guinea pig brains. Subcellular distribution of biotinidase was found mainly in the soluble cytoplasmic fraction (S3), i.e., in the supernatant of 0.32 M sucrose S2 solution after ultracentrifugation at 105,000g for 90 min. This is in contrast to the guinea pig livers, in which the subcellular distribution of biotinidase is mainly found in the microsomal fraction. After a seven-step purification (22,200-fold enrichment), porcine brain biotinidase is identified as a single polypeptide by the sodium dodecyl sulfate-polyacrylamide gel electrophoresis system, and its molecular weight is determined as 68,000 Da. The isoelectric point of the enzyme was 4.3. Sialidase treatment strongly suggests the presence of sialyl residues in this enzyme. Amino acid analysis indicates relatively high hydrophilicity and high content of glycine and serine. The enzyme activity is inhibited by organic mercurials, but not by diisopropylfluorophosphate. Abundant soluble biotinidase in brain cytoplasm may play an important role which has not been discovered yet.
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PMID:Biotinidase in the porcine cerebrum. 232 94

The mechanisms of biotin reabsorption in rat kidney cortex were investigated using isolated brush-border membrane vesicles. An inwardly directed Na+ gradient specifically stimulated a transient biotin overshoot. Biotin transport was not affected by a valinomycin-induced K(+)-diffusion potential, and biotin(-)-Na+ stoichiometry was found to be 1:1. As a function of concentration, the uptake showed saturation in the presence of a Na+ gradient with an apparent Michaelis constant (Km) of 55 microM and Vmax of 217 pmol.mg protein-1.25 s-1. Desthiobiotin, 250 microM, norbiotin, bisnorbiotin, thioctic acid, valeric acid, probenecid, and nonanoic acid inhibited the transport of 30 microM biotin, whereas other biotin derivatives, as well as biocytin and organic acids found in the urine of biotinidase-deficient patients, did not. Preloading of the vesicles with biotin, desthiobiotin, norbiotin, and thioctic acid in the presence of Na+ increased initial uptake of biotin from the incubation medium (trans-stimulation). Our results indicate that biotin absorption in rat kidney fulfills the criteria for a specific carrier-mediated and electroneutral Na(+)-biotin- cotransport in a 1:1 ratio. The results are discussed in context with congenital biotinidase deficiency in humans.
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PMID:Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney. 233 Sep 80

Full-thickness biopsies of haired and alopecic skin of biotin-deficient rats had less subcutaneous fat and showed lipophilic follicular plugging, vascular engorgement, epidermal hyperplasia, and abnormal keratinization. Mean activities of the three mitochondrial biotin-dependent carboxylases in the skin of biotin-deficient animals were reduced to 3-18% of control whereas the cytosolic enzyme, acetyl-CoA carboxylase, was reduced only to 38-61%. The total fatty acid content of haired and alopecic skin of deficient rats was 30% of those in the corresponding skin sites of control animals. Skin from deficient rats contained less of several long-chain fatty acids (16:0, 16:1, 18:0, 18:1, and 18:2) and more very-long-chain fatty acid, particularly 24:1 and 26:1. These alterations in fatty acids in biotin-deficient rats suggest that the skin findings in biotin and biotinidase deficiencies in humans may be due to similar fatty acid changes.
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PMID:Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats. 233 44

Biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by seizures, ataxia, alopecia and skin rash. We describe a colorimetric semiquantitative method for screening for biotinidase activity from dried samples of whole blood spotted on filter papers. The administration of biotin to affected children can be a lifesaving procedure and can prevent irreversible neurologic damage.
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PMID:[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. 235 50

Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.
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PMID:Partial biotinidase deficiency associated with Coffin-Siris syndrome. 191 29

In order to evaluate the clinical significance of serum biotin and biotinidase in liver disease, serum biotin levels and biotinidase activities were determined in 83 patients with various liver diseases and 10 healthy controls. Serum biotin levels and biotinidase activities were determined by a simplified lactobacillus plantarum bioassay and liquid chromatography with fluorimetric detection respectively. Serum biotin levels in decompensated liver cirrhosis, hepatoma and fulminant hepatitis were found to be significant low compared with healthy controls, while it was significant high in autoimmune hepatitis. There was no significant difference between serum biotin levels in the other liver diseases and healthy controls. In various liver diseases except for both acute hepatitis and alcoholic liver disease biotinidase activities were significantly reduced than in healthy controls. Serum biotinidase activities were correlated with serum albumin, prothrombin time, ChE and total cholesterol respectively, suggesting that biotinidase activities may reflect the degree of liver damage. These results seem that biotin deficiency may occur in some cases of severe liver diseases.
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PMID:[Clinical evaluation of serum biotin levels and biotinidase activities in patients with various liver diseases]. 238 84

We screened 163,000 newborn filter-paper blood samples for serum biotinidase deficiency (McKusick 25326) and found 15 probands: three had complete deficiency (incidence 18.4 cases per million live births, 95% confidence interval 4-54 cases per million); the others had partial deficiency. The positive predictive value of the test for either form of biotinidase deficiency was 9.86%. We found seasonal variation in biotinidase activity in filter-paper blood samples. The cost per test was Can.$0.27 (1987 dollar value) and per case of complete deficiency ascertained, $15,500. Family studies indicated that complete serum biotinidase deficiency is a homozygous phenotype and partial deficiency is the heterozygous form. Homozygous cases were treated with biotin and have shown no clinical manifestations (55 patient-months of observation). None of the heterozygotes (n = 42, age 3 months - 62 years) has clinical manifestations. The number of heterozygotes found by screening was much less than predicted probably because the screening test detects mainly the samples with very low (outlier) biotinidase activity. The variant allele(s) for biotinidase deficiency was more common in French Canadians than in other ethnic groups in Quebec; there was no evidence of regional clustering or founder effect.
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PMID:Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. 250 73

Vitamin therapy for inborn errors of metabolism has been used in thiamin-responsive maple syrup urine disease, homocystinuria (pyridoxine-responsive cystathionine synthetase deficiency), disorders of vitamin B12 metabolism and defective methylmalonyl-CoA mutase, biotinidase and holocarboxylase synthetase deficiency, multiple acyl-CoA dehydrogenase deficiency, defective methylene tetrahydrofolate reductase and complex III deficiency (respiratory chain). The inherited defects lead either to alterations of the apoenzymes or to deficiencies of enzymes involved in the processing or reutilization of the vitamins. The application of pharmacological doses of vitamins can be useful in these disorders in order to overcome diminished apoenzyme binding, to saturate residual activities of defective processing enzymes, to compensate for pathological losses, or for acting as electron carriers.
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PMID:Vitamins and inherited human errors of metabolism. 250 94

Biotinidase (EC 3.5.1.12) activity in human breast milk was first demonstrated by us, using a newly developed method. The enzyme activity was relatively low compared with that in human serum. However, its activity increased significantly with thiol-reactive agents. Taurine and glutathione also enhanced the enzyme activity considerably. From these results, we speculate that biotinidase in milk would be protected from various inactivation-mechanisms in the same manner as milk lipase. Biotinidase might play an important role in the intestinal absorption of the indispensable vitamin, biotin, during infancy, when enzymes in the pancreatic juice are still immature.
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PMID:The significance of breast milk biotinidase. 251 65


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