Biotinidase: An enzyme which catalyzes the release of BIOTIN from biocytin. In human, defects in the enzyme are the cause of the organic acidemia MULTIPLE CARBOXYLASE DEFICIENCY or BIOTINIDASE DEFICIENCY.Biotinidase Deficiency: The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.AmidohydrolasesBiotin: A water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk.Multiple Carboxylase Deficiency: A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.Neurocutaneous Syndromes: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.Holocarboxylase Synthetase Deficiency: The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).Biotinylation: Incorporation of biotinyl groups into molecules.p-Chloromercuribenzoic Acid: An organic mercurial used as a sulfhydryl reagent.Dermatitis, Seborrheic: A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Genetic Vectors: DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).International Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.Databases, Factual: Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.Pyruvate Carboxylase Deficiency Disease: An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)Carbon-Nitrogen Ligases: Enzymes that catalyze the joining of two molecules by the formation of a carbon-nitrogen bond. EC 6.3.Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)Phenylalanine: An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.Phenylketonuria, Maternal: A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)Phenylalanine Hydroxylase: An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.IndiaBlood Gas Monitoring, Transcutaneous: The noninvasive measurement or determination of the partial pressure (tension) of oxygen and/or carbon dioxide locally in the capillaries of a tissue by the application to the skin of a special set of electrodes. These electrodes contain photoelectric sensors capable of picking up the specific wavelengths of radiation emitted by oxygenated versus reduced hemoglobin.Patents as Topic: Exclusive legal rights or privileges applied to inventions, plants, etc.Transcutaneous Electric Nerve Stimulation: The use of specifically placed small electrodes to deliver electrical impulses across the SKIN to relieve PAIN. It is used less frequently to produce ANESTHESIA.Inventions: A novel composition, device, or process, independently conceived de novo or derived from a pre-existing model.Intellectual Property: Property, such as patents, trademarks, and copyright, that results from creative effort. The Patent and Copyright Clause (Art. 1, Sec. 8, cl. 8) of the United States Constitution provides for promoting the progress of science and useful arts by securing for limited times to authors and inventors, the exclusive right to their respective writings and discoveries. (From Black's Law Dictionary, 5th ed, p1014)Disclosure: Revealing of information, by oral or written communication.Foramen Ovale, Patent: A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance.Calibration: Determination, by measurement or comparison with a standard, of the correct value of each scale reading on a meter or other measuring instrument; or determination of the settings of a control device that correspond to particular values of voltage, current, frequency or other output.Wireless Technology: Techniques using energy such as radio frequency, infrared light, laser light, visible light, or acoustic energy to transfer information without the use of wires, over both short and long distances.Biosensing Techniques: Any of a variety of procedures which use biomolecular probes to measure the presence or concentration of biological molecules, biological structures, microorganisms, etc., by translating a biochemical interaction at the probe surface into a quantifiable physical signal.Answering Services: Communication services provided by a person or a machine to record and relay the message from the caller.Transducers: Any device or element which converts an input signal into an output signal of a different form. Examples include the microphone, phonographic pickup, loudspeaker, barometer, photoelectric cell, automobile horn, doorbell, and underwater sound transducer. (McGraw Hill Dictionary of Scientific and Technical Terms, 4th ed)Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Drug Delivery Systems: Systems for the delivery of drugs to target sites of pharmacological actions. Technologies employed include those concerning drug preparation, route of administration, site targeting, metabolism, and toxicity.Arachnoid: A delicate membrane enveloping the brain and spinal cord. It lies between the PIA MATER and the DURA MATER. It is separated from the pia mater by the subarachnoid cavity which is filled with CEREBROSPINAL FLUID.Porosity: Condition of having pores or open spaces. This often refers to bones, bone implants, or bone cements, but can refer to the porous state of any solid substance.Defibrillators, Implantable: Implantable devices which continuously monitor the electrical activity of the heart and automatically detect and terminate ventricular tachycardia (TACHYCARDIA, VENTRICULAR) and VENTRICULAR FIBRILLATION. They consist of an impulse generator, batteries, and electrodes.Prostheses and Implants: Artificial substitutes for body parts, and materials inserted into tissue for functional, cosmetic, or therapeutic purposes. Prostheses can be functional, as in the case of artificial arms and legs, or cosmetic, as in the case of an artificial eye. Implants, all surgically inserted or grafted into the body, tend to be used therapeutically. IMPLANTS, EXPERIMENTAL is available for those used experimentally.Radio Frequency Identification Device: Machine readable patient or equipment identification device using radio frequency from 125 kHz to 5.8 Ghz.Electromagnetic Radiation: Waves of oscillating electric and MAGNETIC FIELDS which move at right angles to each other and outward from the source.Contrast Sensitivity: The ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease.Blood Glucose Self-Monitoring: Self evaluation of whole blood glucose levels outside the clinical laboratory. A digital or battery-operated reflectance meter may be used. It has wide application in controlling unstable insulin-dependent diabetes.Monitoring, Ambulatory: The use of electronic equipment to observe or record physiologic processes while the patient undergoes normal daily activities.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Candidiasis, Chronic Mucocutaneous: A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.Polyendocrinopathies, Autoimmune: Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.Candidiasis, Cutaneous: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Granulomatous Disease, Chronic: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.

Human biotinidase isn't just for recycling biotin. (1/38)

For years, the major role of biotin has been as the coenzyme for four carboxylases in humans. Although there has been evidence that biotin might have other functions, none has been firmly established. The discovery that human serum biotinidase has biotinyl-transferase activity, in addition to biotinidase hydrolase activity, presents new possibilities for the role of biotinidase in biotin metabolism. Specific transfer of biotin to histones by biotinidase provides a possible explanation for why biotin is found in the nucleus and the nature of its role in the regulation of protein transcription. Future studies will help to determine the functions of biotinidase in biotin metabolism and in disease states.  (+info)

Regulation of leukocyte adherence and migration by glycosylphosphatidyl-inositol-anchored proteins. (2/38)

Leukocyte extravasation is essential for subsequent inflammation and the immune response. Extravasation can be divided into at least three steps; rolling, firm adhesion, and transendothelial migration. Although the mechanisms involved in the first two steps have been fairly well documented, the last step is complex and largely remains to be clarified. This review focuses on the possible role of GPI-anchored proteins on leukocytes in the regulation of their transendothelial migration. In addition to regulation by urokinase and its receptor, which has been regarded as the main modulator, we draw attention to a novel GPI-anchored protein (GPI-80) on human phagocytes that may be involved in regulating leukocyte adhesion and migration. The high degree of homology of GPI-80 with vanin-1, which is expressed on vascular tissues and is involved in prethymic cell homing into the thymus, raises the possibility that there is a family of molecules, including GPI-80 and vanin-1, that may be involved in leukocyte transendothelial migration. The possible role of soluble GPI-anchored proteins in this process is also discussed.  (+info)

Is pantetheinase the actual identity of mouse and human vanin-1 proteins? (3/38)

Pantetheinase is an amidohydrolase involved in the dissimilative pathway of CoA, allowing the turnover of the pantothenate moiety. We have determined the N-terminal sequence as well as the sequences of a number of tryptic and chymotryptic peptides of the protein isolated from pig kidney. These sequence stretches were used as probes to search in the SwissProt database and significant similarities were found with a GPI-anchored protein (mouse vanin-1, with a suggested role in lymphocyte migration), with two putative proteins encoded by human cDNAs (VNN1 and VNN2) and with human biotinidase. On the basis of sequence similarity, we propose that vanin-1 and VNN1 should be identified as pantetheinase.  (+info)

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. (4/38)

Biotinidase deficiency is an autosomal recessive defect in the recycling of biotin that can lead to a variety of neurologic and cutaneous symptoms. The disease can be prevented or effectively treated with exogenous biotin. The biotinidase locus (BTD) has been maped to 3p25 by in situ hybridization. The gene has been cloned, the coding region sequenced, the genomic organization determined, and a spectrum of mutations has been characterized in more than 90 individuals with profound or partial biotinidase deficiency. We have conducted haplotype analysis of 10 consanguineous and 39 nonconsanguineous probands from the United States and 8 consanguineous probands from Turkey to localize BTD with respect to polymorphic markers on 3p and to investigate the origins of five common mutations. The inbred probands were homozygous for overlapping regions of 3p ranging in size from 1.1 to 80 cM which were flanked most narrowly by D3S1259 and D3S1293. Radiation hybrids and haplotype analysis of markers within this region suggest that BTD is located within a 0.1-cM region flanked by D3S3510 and D3S1286. The radiation hybrid data suggest that the BTD gene is oriented 5' to 3' between the centromere and the 3p telomere. Association studies indicate that the gene is closer to a third locus D3S3613 than D3S3510, two markers which cannot be resolved by existing linkage data. The BTD locus and D3S3613 must therefore lie between D3S3510 and D3S1286. Comparison of haplotypes reveals evidence for possible founder effects for four of the five common mutations.  (+info)

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. (5/38)

This study characterises the spectrum of biotinidase mutations in 21 patients (17 families) with profound biotinidase deficiency (BD) and 13 unrelated patients with partial BD using a denaturing gradient gel electrophoretic mutation screening and selective sequencing approach. In 29 from 30 unrelated families we found biallelic mutations including four common mutations, D444H (frequency 23.3%), G98:d7i3(20.0%), Q456H(20.0%), T532M (15.0%) and nine rare mutations (V62M, R157H, A171T+D444H, C423W, D543H, L279W, N172S, V109G, 12236G-A) with frequencies less than 5.0%. Only three profound BD patients with G98:d7i3/G98:d7i3 and Q456H/Q456H genotypes and residual biotinidase activities of 0.0%, and 0.9% of normal activity developed clinical symptoms before biotin supplementation at 8 weeks of age. All other patients remained asymptomatic within the first months of life or even longer without treatment. Two patients homozygous for the frameshift mutation G98:d7i3 had no measurable residual enzyme activity. Twelve patients with partial BD had the D444H mutation in at least one allele. We conclude that, based on mutation analysis and biochemical examinations of the enzyme, it is currently not clearly predictable whether an untreated patient will develop symptoms or not, although it seems that patients with activities lower than 1% are at a high risk for developing symptoms of the disease early in life.  (+info)

Biotinylation of histones in human cells. Effects of cell proliferation. (6/38)

An enzymatic mechanism has been proposed by which biotinidase may catalyze biotinylation of histones. Here, human cells were found to covalently bind biotin to histones H1, H2A, H2B, H3, and H4. Cells respond to proliferation with increased biotinylation of histones; biotinylation increases early in the cell cycle and remains increased during the cycle. Notwithstanding the catalytic role of biotinidase in biotinylation of histones, mRNA encoding biotinidase and biotinidase activity did not parallel the increased biotinylation of histones in proliferating cells. Biotinylation of histones might be regulated by enzymes other than biotinidase or by the rate of histone debiotinylation.  (+info)

Biotin dependency due to a defect in biotin transport. (7/38)

We describe a 3-year-old boy with biotin dependency not caused by biotinidase, holocarboxylase synthetase, or nutritional biotin deficiency. We sought to define the mechanism of his biotin dependency. The child became acutely encephalopathic at age 18 months. Urinary organic acids indicated deficiency of several biotin-dependent carboxylases. Symptoms improved rapidly following biotin supplementation. Serum biotinidase activity and Biotinidase gene sequence were normal. Activities of biotin-dependent carboxylases in PBMCs and cultured skin fibroblasts were normal, excluding biotin holocarboxylase synthetase deficiency. Despite extracellular biotin sufficiency, biotin withdrawal caused recurrent abnormal organic aciduria, indicating intracellular biotin deficiency. Biotin uptake rates into fresh PBMCs from the child and into his PBMCs transformed with Epstein Barr virus were about 10% of normal fresh and transformed control cells, respectively. For fresh and transformed PBMCs from his parents, biotin uptake rates were consistent with heterozygosity for an autosomal recessive genetic defect. Increased biotin breakdown was ruled out, as were artifacts of biotin supplementation and generalized defects in membrane permeability for biotin. These results provide evidence for a novel genetic defect in biotin transport. This child is the first known with this defect, which should now be included in the identified causes of biotin dependency.  (+info)

PCR designer for restriction analysis of various types of sequence mutation. (8/38)

Restriction analysis is widely used to detect gene mutations such as insertions, deletions and single nucleotide polymorphisms (SNPs). Although such mutation sites sometimes present some natural restriction sites to differentiate the wild-type and mutant sequences, mismatches are often needed in order to create artificial restriction fragment length polymorphisms (RFLPs). In this report, a computer program is described that screens for suitable restriction enzymes, introducing mismatches where appropriate and when necessary, designs primers using the information of the selected restriction enzymes, their recognition sequence and locations as well as the information about the mismatches if any. The program, supported by a WWW web interface, is intended to be used online.  (+info)

TRIVITRON HEALTHCARE PVT. LTD. - Exporter, Manufacturer, Distributor & Supplier of Neonatal Biotinidase based in New Delhi, India
Biotinidase (BTD), a ubiquitous mammalian cell enzyme, is present in high levels in the serum, liver, and kidneys. Its primary enzymatic function is to cleave the vitamin biotin (also known as coenzyme R, vitamin H, or vitamin B7) from the organic compound biocytin.
Kit Component:- KN204153G1, BTD gRNA vector 1 in pCas-Guide vector- KN204153G2, BTD gRNA vector 2 in pCas-Guide vector- KN204153D, donor vector…
TY - JOUR. T1 - Epigenetic regulation of chromatin structure and gene function by biotin. AU - Hassan, Yousef I.. AU - Zempleni, Janos. PY - 2006/7/6. Y1 - 2006/7/6. N2 - Covalent modifications of histones are a crucial component of epigenetic events that regulate chromatin structures and gene function. Evidence exists that distinct lysine residues in histones are modified by covalent attachment of the vitamin biotin, catalyzed by biotinidase and holocarboxylase synthetase. Biotinylation of histones appears to be conserved across species. The following biotinylation sites were identified using both MS and enzymatic biotinylation of synthetic peptides: K9, K13, K125, K127, and K129 in histone H2A; K4, K9, and K18 in histone H3; and K8 and K12 in histone H4. Evidence was provided that biotinylated histone H4 is enriched in pericentromeric heterochromatin, and that biotinylation of histone H4 participates in gene silencing, mitotic condensation of chromatin, and the cellular response to DNA damage. ...
This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The…
Results 699 participants, 68.8% boys, median age at investigation 2 years 8 months (range 3 months to 11 years 5 months). 61 (8.7%) of participants had no investigations, and children with EDI∠were less likely to be investigated (χ2=12.5, p,0.05). A diagnosis was made in 166 children (23.7%) and was more frequent in EDI+ (EDI− 9.9%, EDI+ 27.3%, χ2=19.0; p,0.05). Full blood count, zinc protoporphyrin, renal or liver function, bone profile, biotinidase, creatine kinase or lead level revealed no diagnoses. The following investigations found causes for EDI: MRI (23.1%), microarray (11.5%), Fragile X (0.9%), plasma amino acids (1.2%), urine organic acids (0.9%) and thyroid function tests (0.5%). ...
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin, also called vitamin B7, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms. Signs and symptoms of a biotinidase deficiency can appear several days after birth. These include seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes (including seborrheic dermatitis and psoriasis), and alopecia. If left untreated, the disorder can rapidly lead to coma and death. Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase deficiency. ...
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Phenylketonuria (PKU) is caused by a defect in the conversion of the amino acid phenylalanine (Phe) to tyrosine (Tyr). Without treatment, patients develop mental retardation. Inclusion of the Phe/Tyr ratio has decreased the number of false positive screening outcomes to the present PPV of 0.92 without any known missed cases. The recall levels have been lowered several times since the start of screening. An increase in the incidence of patients with milder disease has been observed with time. We were able to show that the impact of the adjusted recall levels was low. Instead, milder genetic variants, which are more common in Southern Europe, are found more often, which is an effect of the large number of non-Nordic immigrants who have come to Sweden during the last 25 years. The immigration has widened the spectrum of detected pathogenic variants ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Free, official coding info for 2020 ICD-10-CM D81.810 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
Symptoms of untreated biotinidase deficiency may appear at any time from 1 week to 10 years of age. The most common early symptoms include seizure activity of various types (myoclonic, grand mal, and focal or infantile spasms) and hypotonia. Other early symptoms include breathing problems (tachypnoea, hyperventilation, stridor and apnoea), skin rashes and alopecia. Later developmental delay, speech problems, ataxia, and vision and hearing problems may occur. Less frequent findings include feeding difficulties, vomiting/diarrhoea, fungal infections, hepatomegaly and splenomegaly. ...
A possible genetic basis should be considered in children with metabolic acidosis not attributable to another disorder, especially if the acidosis cannot be explained by elevated lactate and/or ß-hydroxybutyrate.. Blood gas arterial or venous.. Organic acids urine (collected during acidotic episode); a normal result, when not acutely ill, does not exclude these disorders. In some diseases (eg, biotinidase deficiency) metabolic acidosis may not occur, but the abnormal organic acids can be detected in the urine.. Identification of the specific disorder depends on the pattern of organic acids excreted during attacks.. Ammonia and Glucose should be measured, as many organic acidaemias are associated with hyperammonaemia and/or hypoglycaemia.. See also Hyperammonaemia, Hypoglycaemia. Naming of specific disorders is usually based on the acid(s) excreted or the deficient enzyme(s).. ...
TABLE-US-00004 TABLE 2 Fraction (4, 5, 6) Swissprot Protein Name Accession # ITIH4_HUMAN (Q14624) Inter-alpha-trypsin inhibitor heavy chain H4 precursor (ITI heavy chain H4) (Inter-alpha-i ITIH4_HUMAN (Q14624) Inter-alpha-trypsin inhibitor heavy chain H4 precursor (ITI heavy chain H4) (Inter-alpha-i PHL1_HUMAN (P80108) Phosphatidylinositol-glycan-specific phospholipase D 1 precursor (EC 3.1.4.50) (PI-G PLD) BTD_HUMAN (P43251) Biotinidase precursor (EC 3.5.1.12) KAIN_HUMAN (P29622) Kallistatin precursor (Serpin A4) (Kallikrein inhibitor) (Protease inhibitor 4) ZA2G_HUMAN (P25311) Zinc-alpha-2-glycoprotein precursor (Zn-alpha-2-glycoprotein) (Zn-alpha-2-GP) A1AG2_HUMAN (P19652) Alpha-1-acid glycoprotein 2 precursor (AGP 2) (Orosomucoid-2) (OMD 2) IBP3_HUMAN (P17936) Insulin-like growth factor binding protein 3 precursor (IGFBP-3) (IBP-3) (IGF-binding prot CO6_HUMAN (P13671) Complement component C6 precursor CLUS_HUMAN (P10909) Clusterin precursor (Complement-associated protein SP-40,40) ...
Supply Competitive Vitamin Biotin Price with high quality Biotin, also known as vitamin H or coenzyme R, is a water-soluble B-vitamin (vitamin B7). It is composed of a ureido (tetrahydroimidizalone) ring fused with a tetrahydrothiophene...
Human Histone H3 (mono methyl K9) peptide Peptide datasheet (ab1771). Abcam offers quality products including antibodies, assays and other reagents.
Human Histone H3 (tri methyl K36) peptide Peptide datasheet (ab1785). Abcam offers quality products including antibodies, assays and other reagents.
Buy our Human Histone H3 (mono methyl K4) peptide. Ab1340 is a blocking peptide for ab8895 and has been validated in Dot, BL. Abcam provides free protocols…
Buy our Human Histone H4 (tri methyl K20) peptide. Ab17567 is a blocking peptide for ab9053 and has been validated in BL. Abcam provides free protocols, tips…
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For more information about newborn screening tests, check out Newborn Screening Tests from KidsHealth.. The following is a list from the National Newborn Screening and Genetic Resource Center of the standard newborn screening procedures by state. For a pdf of this list, click here.. Newborn Screener: Alabama. Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Sickle cell disease, Congenital adrenal hyperplasia. Newborn Screener: Alaska Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Maple syrup urine disease, Biotinidase deficiency, Congenital adrenal hyperplasia. Newborn Screener: Arizona Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Maple syrup urine disease, Homocystinuria, Biotinidase deficiency, Sickle cell disease. Newborn Screener: Arkansas Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Sickle cell ...
0248] The term "analyte," as used herein, is a broad term and is used in its ordinary sense, including, without limitation, to refer to a substance or chemical constituent in a biological fluid (for example, blood, interstitial fluid, cerebral spinal fluid, lymph fluid or urine) that can be analyzed. Analytes may include naturally occurring substances, artificial substances, metabolites, and/or reaction products. In some embodiments, the analyte for measurement by the sensor heads, devices, and methods is analyte. However, other analytes are contemplated as well, including but not limited to acarboxyprothrombin; acylcarnitine; adenine phosphoribosyl transferase; adenosine deaminase; albumin; alpha-fetoprotein; amino acid profiles (arginine (Krebs cycle), histidine/urocanic acid, homocysteine, phenylalanine/tyrosine, tryptophan); andrenostenedione; antipyrine; arabinitol enantiomers; arginase; benzoylecgonine (cocaine); biotinidase; biopterin; c-reactive protein; carnitine; carnosinase; CD4; ...
Mouse monoclonal antibody raised against recombinant human Histone H3. Recombinant protein corresponding to human Histone H3. (MAB14088) - Products - Abnova
This study is designed for the evaluation, diagnosis, and long-term follow up of selected patients with primary immune deficiencies and other conditions associated with fungal, and more specifically with Candida spp. infections. The primary immune deficiencies to be studied include, but are not limited to, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), chronic mucocutaneous candidiasis (CMC), myeloperoxidase deficiency (MPO), immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX), Job s syndrome, chronic granulomatous disease (CGD), and biotinidase deficiency. Diabetic patients and infants also show increased susceptibility to such infections and might be studied. Patient participants (who we will refer to as patients in this study) will undergo evaluations that include history/physical, blood sampling, genetic testing, and possible tissue sampling. We may use some of the blood cells to investigate the utility of induced pluripotent stem cells (iPS) for ...
This study is designed for the evaluation, diagnosis, and long-term follow up of selected patients with primary immune deficiencies and other conditions associated with fungal, and more specifically with Candida spp. infections. The primary immune deficiencies to be studied include, but are not limited to, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), chronic mucocutaneous candidiasis (CMC), myeloperoxidase deficiency (MPO), immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX), Job s syndrome, chronic granulomatous disease (CGD), and biotinidase deficiency. Diabetic patients and infants also show increased susceptibility to such infections and might be studied. Patient participants (who we will refer to as patients in this study) will undergo evaluations that include history/physical, blood sampling, genetic testing, and possible tissue sampling. We may use some of the blood cells to investigate the utility of induced pluripotent stem cells (iPS) for ...
U.S., Feb. 27 -- ClinicalTrials.gov registry received information related to the study (NCT03034707) titled Interference of Biotin Supplementation in Biotin-streptavidin Platforms for Hormone Testing on Jan. 17. Brief Summary: The B vitamin biotin is widely available as an over the counter supplement, often advertised and used to promote health of hair, skin and nails. Commercially available over the counter biotin supplements contain dose ranges up to 10 mg/day (ie 333 times higher than the recommended dietary allowance). The biotin molecule is also sometimes used as part of the lab technology to measure hormone and protein levels in the blood. It is possible that high doses of ingested biotin may interfere with accurate hormone or protein measurement using biotin related in vitro measurement systems. Such interference, if present, could lead to misdiagnosis. The study will analyze laboratory levels obtained with streptavidin-biotin assay systems while ingesting biotin in currently available ...
Rabbit monoclonal antibody raised against synthetic acetyl peptide of human histone H2B (acetyl K23). A synthetic acetyl peptide corresponding to residues surrounding K23 of human histone H2B. (MAB15113) - Products - Abnova
Fluorescent Dyes , Biotins and Streptavidins , Streptavidin, recombinant; Streptavidin is a nonglycosylated, tetrameric protein, with each subunit able to bind a single molecule of the vitamin biotin. Streptavidin-biotin bond is the strongest known non-covalent interaction with Kd ~10-15 M. Because streptavidin lacks any carbohydrate modification and has a near-neutral pI, it has the advantage of much lower nonspecific binding than avidin. Streptavidin is broadly used in various applications such as immunoassays, histochemistry, FISH (Fluorescence In Situ Hybridization), flow cytometry, microarrays and blot analysis.
Despite regular organ function tests at our Mds laboratory being clear, the scan showed weak Adrenals and Liver weakness due to the Leaky Gut problems. I believe the Liver is responsible for the periodic vision distortion problems I have been experiencing for as long as I can remember. I was a very jaundiced colicy baby according to my late mother. Pieces of the jigsaw of problems I have had through life with food are now starting to fall into place and thanks to the lead given by the BTD I think I am going to make some more progress ...
Calcium, Biotin & Trace Mineral Supplement. In CAL-PLUS with BIOTIN, Vetsearch has combined the bone-building calcium, trace minerals and vitamin co-factors found in traditional CAL-PLUS, with the B-Complex vitamin BIOTIN, to assist horses with brittle, cracked, shelly or broken hooves.
Two independent studies have shown that the vitamin biotin thickens weak nails and reduces splitting. In just six to eight weeks, your clients may be able to finally grow strong, healthy nails.
This page illustrates crystallites of the important vitamin biotin (vitamin H) viewed under a combination of crossed polarization and Hoffman modulation contrast illumination.
Anti-E2F-1 (Acetyl K125) polyclonal antibody (STJ98840) was developed using a synthesized Tri-Methyl peptide derived from Human Histone H3 at AA range: K80. This antibody is applicable for use in western blot and ELISA protocol.
BioFlax 20 is ...the hands-down choice for coat, skin and hoof problems - Horse Journal, June 2000 issue. Biotin supplementation has been shown to be helpful in improving hoof qu...
Information, guidance and support for readers interested in applying the principles of The Blood Type Diet as outlined by The New York Times best-selling author Dr. Peter DAdamo.
... enable isolation, separation, concentration and further downstream processing or analysis of biomolecules.
HCS antibody (holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)) for IHC-P, WB. Anti-HCS pAb (GTX109815) is tested in Human samples. 100% Ab-Assurance.
Recombinant protein of human holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) (HLCS), 20 ug available for purchase from OriGene - Your Gene Company.
Histone H2BJ antibody for detecting human histone H2B type 1-J. Validated on up to 12 cell lysates for western blotting. Try a trial size today.
Biotin-dependent carboxylases include acetyl-CoA carboxylase (ACC), propionyl-CoA carboxylase (PCC), 3-methylcrotonyl-CoA carboxylase (MCC), geranyl-CoA carboxylase, pyruvate carboxylase (PC), and...
Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner (PubMed:25525879). Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest (PubMed:16959573, PubMed:17715127). In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation. Acts as a tumor suppressor (PubMed:23562301, PubMed
Anti-human histone H2B (polyclonal antibody) raised in rabbits. Histone H2B plays a role in the packaging and maintenance of chromatin in eurkaryotic cells. CODE NUMBER: RH2B.. QUANTITY: 0.1 mL.. SPECIFICITY: Reacts with histone H2B in human nuclear fractions. No cross-reactivity with other histones: H1, H2A, H3 or H4.. IMMUNOGEN: Synthetic peptide.. SUGGESTED APPLICATIONS: Western blot, immunohistochemistry on frozen and formaldehyde treated sections. Optimal working dilutions must be determined by end user.. SPECIES REACTIVITY: Human. Binding to histone H2B from other species has not been tested, but is likely as the amino acid sequence of histone H2B has been found to be identical in all species examined.. FORMAT: Rabbit antiserum.. PRESENTATION: Liquid. No preservatives.. STORAGE/HANDLING: Maintain at -20°C in undiluted aliquots for up to 12 months. Avoid repeated freeze/thaw cycles.. For research use only; not for use in diagnostic procedures. Not for human or animal consumption.. To ...
Author Summary Eukaryotic DNA is packaged into chromatin through its association with histone proteins. The linker histone H1 sits at the base of the nucleosome near the DNA entry and exit sites to stabilize two full turns of DNA. In particular, histone H1 participates in nucleosome spacing and formation of the higher-order chromatin structure. In addition, H1 seems to be actively involved in the regulation of gene expression. Histone H1 in mammals is a family of closely related, single-gene encoded proteins, including five somatic subtypes (from H1.1 to H1.5) and a terminally differentiated expressed isoform (H1.0). It is not well known whether the different variants have distinct roles or if they regulate specific promoters. We have explored this by inducible knock-down of each of the H1 variants in breast cancer cells. A different subset of genes is altered in each H1 knock-down, and depletion has different effects on cell survival. Interestingly, H1.2 and H1.4 depletion specifically caused arrest of
Complications of Biotin deficiency including hidden complications, secondary medical conditions, symptoms, or other types of Biotin deficiency complication.
Biotin is a member of the B vitamin family that functions in the manufacture and utilization of fats and amino acids. Biotin deficiency is characterized by dry, scaly skin and seborrhea. Biotin supplementation has been shown to increase the strength of nails and promote healthy hair.*
biotinyl-AMP synthetase: the first of two reactions catalyzed by holocarboxylase synthetases; forms biotinyl-5-AMP from biotin + ATP
The genetic information of a human diploid cell is contained within approximately 2 metres of linear DNA. The DNA molecules are compacted and organized in various ways to fit inside the cell nucleus. Various kinds of histones are involved in this compaction. One of these histones, histone H1 is the topic of the present thesis. In addition to its structural role, H1 histones have been implicated in various processes, for example gene regulation and inhibition of chromatin replication.. H1 histones, also termed linker histones, are relatively conserved proteins, and the various subtypes seem to have different and important functions even though redundancy between the subtypes has been demonstrated. Despite the sequence conservation of H1 subtypes, two sequence variations were detected within the H1.2 and H1.4 subtypes using hydrophilic interaction liquid chromatographic separation of H1 proteins from K562 and Raji cell lines in Paper I in the present thesis. The variations were confirmed by ...
So, who is Muscle Egg egg whites? "Muscle Egg is a Family owned enterprise. We are a state of the art egg processing facility that has been providing the highest quality eggs and egg products for over 50 years. Muscle Egg Liquid Egg Whites are produced in a USDA compliant facility with state of the art equipment. This ensures the safest, highest quality liquid egg whites possible. Our egg whites are salmonella, listeria and avidin free. Avidin, found in raw eggs, affects B vitamin biotin, stops it being absorbed, and causes problems with fatty acid synthesis and blood sugar levels. The pasteurising process for the liquid egg whites removes the avidin, and any salmonella or listeria, but the egg whites remain liquid, ready for cooking or immediate consumption." ...
Rabbit polyclonal antibody to human Histone H2B (H2B, NP_001019770.1). GS0021 binds to histone H2B regardless of the presence of an O-GlcNAc on serine 112 (S112). Amino acid sequence of the region flanking S112 suggests cross-reactivity with histone H2B of multiple species including mouse, rat, chicken, hamster and pri
Target carboxyl groups for biotin labeling using amine-derivatized biotin molecules. Choose the best carboxyl biotinylation reagents for your application!
전세계 고객의 Biotin, 비오틴등급을 인증 한 한국 최대 소스. 오늘 방문하여 Biotin, 비오틴부작용, 혜택 등에 대해 알아보십시오.
The following proteins are candidates for maintaining biotin homeostasis in humans: the biotin transporters sodium-dependent multivitamin transporter (SMVT) and monocarboxylate transporter 1, the biotinyl-protein ligase holocarboxylase synthetase (HC
抗马Biotin (ab6920)经WB, ELISA, IHC-P, IHC-Fr, IM, Dot, ICC/IF实验严格验证。被多篇发表文献引用。其他多种Biotin偶联二抗可供选择。品质保证,中国80%以上现货。
Biotin偶联FGF4抗体(ab83156)可与人样本反应并经WB, ELISA, sELISA实验严格验证,实验条件参看说明书。Abcam对所有产品均提供质保服务和专属技术支持,中国75%以上现货。
BTD: biotinidase. *C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein. ...
AMACR Biotinidase deficiency; 253260; BTD Birk-Barel mental retardation dysmorphism syndrome; 612292; KCNK9 Birt-Hogg-Dube ...
Zempleni, Janos; Hassan, Yousef I; Wijeratne, Subhashinee SK (2008-11-01). "Biotin and biotinidase deficiency". Expert review ...
The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. Forms include: ... Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset; If left untreated, the symptoms can ...
Biotinidase deficiency is not due to inadequate biotin, but rather to a deficiency in the enzymes that process it. Biotinidase ... Biotinidase itself is known to be able to biotinylate histone proteins, but little biotin is found naturally attached to ... Neonatal screening for biotinidase deficiency began in the United States in 1984 and today many countries test for this ... Wolf B, Grier RE, Secor McVoy JR, Heard GS (1985). "Biotinidase deficiency: a novel vitamin recycling defect". J Inherit Metab ...
1 in 5,000 Biotinidase deficiency (BIOT) > 1 in 75,000 Congenital adrenal hyperplasia (CAH) > 1 in 25,000 Classical ...
2006) reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy. The ... Mikati MA, Zalloua P, Karam P, Habbal MZ, Rahi AC (November 2006). "Novel mutation causing partial biotinidase deficiency in a ... ISBN 0-07-913035-6. Yetgin S, Aytac S, Kalkanoglu S, Coskun T, Ortmann C, Kratz C, Niemeyer C (September 2007). "Biotinidase ... Welling DB (August 2007). "Long-term follow-up of hearing loss in biotinidase deficiency". J. Child Neurol. 22 (8): 1055. doi: ...
Enzyme assays are used to screen for galactosemia and biotinidase deficiency. Immunoassays measure thyroid hormones for the ...
Enzyme assays are used to screen for galactosemia and biotinidase deficiency. Immunoassays measure thyroid hormones for the ...
Biotinidase, the enzyme that in humans is encoded by the BTD gene. The Boston Transportation Department. Douglas BTD Destroyer ...
Because biocytin is the natural substrate of the enzyme biotinidase, biocytin can be used to measure the biotinidase activity ... The enzyme biotinidase cleaves biocytin and makes biotin available to be reused by other enzymes. ... and therefore diagnose biotinidase deficiency. Biocytin is also used in scientific research as a histological stain for nerve ...
Symptoms are very similar to biotinidase deficiency and treatment - large doses of biotin - is also the same.[citation needed] ...
2006). "Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus ...
2006). "Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus ...
No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, ... and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to ...
... such as biotinidase deficiency and holocarboxylase synthetase deficiency) can be treated solely with biotin. Individuals with ...
Alopecia mucinosa Biotinidase deficiency Chronic inflammation Diabetes Lupus erythematosus Pseudopelade of Brocq Telogen ...
... administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in ...
... biotinidase C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein. C3orf23: encoding protein ... right ventricular dysplasia Atransferrinemia Autism Autosomal Dominant Optic Atrophy ADOA Plus Syndrome Biotinidase deficiency ...
Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia Trimethylaminuria Hartnup disease Biotinidase ...
... biotinidase MeSH D08.811.277.087.280 --- dihydroorotase MeSH D08.811.277.087.483 --- glutaminase MeSH D08.811.277.087.520 --- ...
... biotinidase deficiency MeSH C18.452.648.066.620.380 --- holocarboxylase synthetase deficiency MeSH C18.452.648.066.729 --- ... biotinidase deficiency MeSH C18.452.648.202.720.380 --- holocarboxylase synthetase deficiency MeSH C18.452.648.202.810 --- ...
... biotinidase deficiency MeSH C16.320.565.066.620.380 --- holocarboxylase synthetase deficiency MeSH C16.320.565.066.729 --- ... biotinidase deficiency MeSH C16.320.565.202.720.380 --- holocarboxylase synthetase deficiency MeSH C16.320.565.202.742 --- ...
... syndrome Binswanger's disease Bipolar disorder Bipolar I disorder Bipolar II disorder Biotin deficiency Biotinidase deficiency ...
... biotinidase EC 3.5.1.13: aryl-acylamidase EC 3.5.1.14: aminoacylase EC 3.5.1.15: aspartoacylase EC 3.5.1.16: acetylornithine ...
Other deficiencies of circulating enzymes Alpha 1-antitrypsin deficiency Biotinidase deficiency Hereditary angioedema (277.7) ...
Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase deficiency. The symptoms ... Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. Individuals with partial biotinidase ... Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations ... Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet ...
Biotinidase (EC 3.5.1.12, amidohydrolase biotinidase, BTD) is an enzyme that in humans is encoded by the BTD gene. This enzyme ... Biotinidase deficiency is an inherited disorder caused by mutations in the BTD gene. When biotinidase activity is deficient, ... Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase ... Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. ...
biotinidase_like; biotinidase and vanins (class 4 nitrilases). * NM_001281725.2 → NP_001268654.1 biotinidase isoform 4 ... XM_024453724.1 → XP_024309492.1 biotinidase isoform X1. Conserved Domains (1) summary. cd07567. Location:38 → 341. biotinidase_ ... High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary. Title: High ... Biotinidase deficiency is reviewed. Title: Clinical utility gene card for: Biotinidase deficiency-update 2015. ...
Biotinidase (BTD), a ubiquitous mammalian cell enzyme, is present in high levels in the serum, liver, and kidneys. Its primary ... encoded search term (Biotinidase Deficiency) and Biotinidase Deficiency What to Read Next on Medscape. Related Conditions and ... Profound biotinidase deficiency has an incidence of about 1 per 137,400 population; partial biotinidase deficiency affects ... This inborn error of metabolism can result from either partial or complete absence of biotinidase. Biotinidase deficiency has a ...
Biotinidase Deficiency. Entry Number; 253260: Last Edit Date: 4/6/2005.. Wolf B. Biotinidase Deficiency. GENEReviews. Last ... Wolf B. Biotinidase: its role in biotinidase deficiency and biotin metabolism. J Nutr Biochem. 2005;16:441-45. ... Mutations in the BTD gene cause biotinidase deficiency. The genetic traits associated with biotinidase deficiency are ... biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly process the vitamin, ...
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.. Wolf B1, Jensen KP, Barshop B, Blitzer ... Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the ... and two are polymorphisms were identified in the biotinidase gene (BTD). One of the missense mutations, c.734G,A (p. C245Y), is ...
... biotinidase explanation free. What is biotinidase? Meaning of biotinidase medical term. What does biotinidase mean? ... Looking for online definition of biotinidase in the Medical Dictionary? ... A deficiency of biotinidase can lead to organic acidemia.. biotinidase. An enzyme encoded by BTD on chromosome 3p25, which ... Biotinidase , definition of biotinidase by Medical dictionary https://medical-dictionary.thefreedictionary.com/biotinidase ...
The recent finding that biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency ... Wolf, B., Heard, G. S., McVoy, J. S. and Raetz, H. M. Biotinidase deficiency: The possible role of biotinidase in the ... Pispa, J. Animal biotinidase.Ann. Med. Exp. Biol. Fenn. 43, Suppl. 5 (1965) 5-39Google Scholar ... Wolf, B., Grier, R. E. and Heard, G. S. Hearing loss in biotinidase deficiency.Lancet 2 (1983c) 1365-1366Google Scholar ...
Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors ... Biotinidase. Dermatitis / blood, drug therapy. Female. Humans. Infant, Newborn. Italy. Mass Screening*. Multiple Carboxylase ... 58-85-5/Biotin; EC 3.5.-/Amidohydrolases; EC 3.5.1.12/Biotinidase From MEDLINE®/PubMed®, a database of the U.S. National ... Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors ...
Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme ... Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.. [Taciane Borsatto, Fernanda Sperb-Ludwig, ... Biotinidase activity, however, may be artifactually low due to enzyme lability, premature birth, and jaundice; this hinders ... The sample comprised 38 individuals with biochemical phenotypes defined a priori on the basis of biotinidase activity in serum/ ...
... congenital hypothyroidism and biotinidase deficiency are birth defects that dont fit neatly into the categories of newborn ... What is biotinidase deficiency?. A baby with biotinidase deficiency (also called BIOT) has trouble using a vitamin called ...
Recombinant protein of human biotinidase (BTD). Human. > 80 % Preparation: Recombint protein was captured through anti-DDK ... Background of Biotinidase antibody. Kit Component:. - KN204153G1, BTD gRNA vector 1 in pCas-Guide vector. - KN204153G2, BTD ... Lenti ORF particles, Btd (Myc-DDK-tagged ORF) - Rat biotinidase (Btd), 200 uL, ,10^7 TU/mL. Not available. ... Lenti ORF particles, BTD (Myc-DDK tagged) - Human biotinidase (BTD) , 200 uL, ,10^7 TU/mL. Not available. ...
Medical research for Biotinidase deficiency including cure research, prevention research, diagnostic research, and basic ... Biotinidase Deficiency (Overview) *Glycogen-Storage Disease Type I (Follow-up) *Newborn Screening *Biotinidase Deficiency ( ... Evidence Based Medicine Research for Biotinidase deficiency. Medical research papers related to Biotinidase deficiency include ... Biotinidase Deficiency (Diagnosis) *Evaluation and Care of the Normal Neonate Click here to find more evidence-based articles ...
Biotinidase deficiency. 2016 2017 2018 2019 2020 Billable/Specific Code *D81.810 is a billable/specific ICD-10-CM code that can ... It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the ... due to a defect or deficiency in biotinidase which is essential for recycling biotin. ...
Biotinidase activity, BTD gene, Expression analysis Persistent URL. dx.doi.org/10.1016/j.ymgme.2019.07.006, hdl.handle.net/1765 ... Effect of BTD gene variants on in vitro biotinidase activity. Publication. Publication. Molecular Genetics and Metabolism ... Biotinidase activity was quantified by colorimetric method in cells homogenates and culture medium. The wtBTD activity was ... In vivo studies indicate that this variant reduces the biotinidase activity by 50%. The objective of this study was to evaluate ...
Biotinidase Genética Triagem neonatal [en] Brazil [en] Genetic variants [en] Low biotinidase [en] Neonatal screening ... Biotinidase deficiency : clinical and genetic studies of 38 Brazilian patients. Autor Borsatto, Taciane Ludwig, Fernanda Sperb ... Background: Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the ... Biotinidase activity, however, may be artifactually low due to enzyme lability, premature birth, and jaundice; this hinders ...
Biotinidase Deficiency. An account by a mother on the web site of the Biotinidase Deficiency Family Support Group notes ... The Biotinidase Deficiency Family Support Group has more cases here. Registration is required to click into the software ... Biotinidase deficiency is by far the leader. She was discharged on phenobarbital but readmitted later for a more complete work- ... No mention is made of whether the diagnosis was confirmed as biotinidase deficiency or was another disorder for which biotin is ...
Wolf, B. "Biotinidase: Its role in biotinidase deficiency and biotin metabolism". J Nutrit Biochem. vol. 16. 2005. pp. 441-5. ... Severe biotinidase deficiency is rare where as partial biotinidase deficiency appears to be common and may be associated with ... Biotinidase levels will vary over time and depend on laboratory methods. The biotinidase assay is temperature sensitive and ... Newborn screening identifies common mutations, which then leads to confirming the deficiency by biotinidase assay . Biotinidase ...
Conclusion: In our study of 70 MS patients, 4,3% presented low-levels of biotinidase activity. This ratio is in line with ... Serum biotinidase activity levels was quantified before initiation of the treatment. Prospective follow-up concerned clinical ... Objectives: To estimate for the first time biotinidase activity levels in a cohort of progressive multiple sclerosis patients ... Normal value in our biochemical laboratory for biotinidase activity level was greater than 90 nkat/l.Three patients had low ...
Also known as: biotinidase blood test, blood test for biotinidase deficiency.. What is the biochemical for biotinidase? ... Biotinidase is an enzyme in the body, which when deficient prevents the body using and reusing biotin, a vitamin that helps ... A blood sample is drawn shortly after birth and sent a laboratory to screen for biotinidase deficiency. If a deficiency is ... Prenatally, biotinidase activity can also be measured from cultured maternal amniotic cells. ...
What is biotinidase deficiency? Meaning of biotinidase deficiency medical term. What does biotinidase deficiency mean? ... Looking for online definition of biotinidase deficiency in the Medical Dictionary? biotinidase deficiency explanation free. ... biotinidase deficiency. Also found in: Dictionary, Thesaurus, Legal, Financial, Encyclopedia, Wikipedia. biotinidase deficiency ... Biotinidase deficiency has an inexpensive and reliable screening test, it is easily treatable and has a high morbidity and ...
... in 0.180 sec.. Newborn Screening Tests: Keep Kids Healthy Maple Syrup Urine Disease (21 states), ... View all results for biotinidase deficiency. Related searches:. parent provider sickle cell disease newborn screen cystic ... That means that if your child is born with biotinidase deficiency ... keepkidshealthy.com ... 3-MCC Parent Provider Amino Acid Disorders Parent Provider Biotinidase Deficiency Parent Provider Congenital Adrenal ...
Biotinidase Deficiency. Biotinidase deficiency is a genetic disorder in which there is a deficiency of the essential B vitamin ...
Biotinidase Deficiency. Babies with biotinidase deficiency dont have enough biotinidase, an enzyme that recycles biotin (a B ... Biotinidase deficiency may cause seizures, poor muscle control, problems with the immune system, hearing loss, intellectual ... If biotinidase deficiency is detected quickly, problems can be prevented by giving the baby extra biotin. ...
Biotinidase Deficiency. Babies with biotinidase deficiency dont have enough biotinidase, an enzyme that recycles biotin (a B ... Biotinidase deficiency may cause seizures, poor muscle control, problems with the immune system, hearing loss, intellectual ... If biotinidase deficiency is detected quickly, problems can be prevented by giving the baby extra biotin. ...
  • Furthermore, in rare cases, even individuals with profound deficiencies of biotinidase can be asymptomatic. (wikipedia.org)
  • Serum biotinidase activity in children treated with valproic acid and carbamazepine. (thefreedictionary.com)
  • Metabolic screening tests (tandem ms, urinary organic acids by thin layer chromatography, biotinidase screening test), biochemical tests (thyroid hormones, serum ammonia and lactate levels) were performed. (thefreedictionary.com)
  • The objective of this study was to evaluate the in vitro effect of p.Asp444His and of five novel variants identified among Brazilian individuals showing low activity of biotinidase in serum. (eur.nl)
  • Serum biotinidase activity levels was quantified before initiation of the treatment. (ectrims-congress.eu)
  • The diagnosis of BD is confirmed by measurement of biotinidase activity in plasma or serum. (biomedcentral.com)
  • When biotinidase activity is deficient, biotin can be neither recycled within the body nor removed from ingested food. (wikipedia.org)
  • Mutations in the genes for holocarboxylase synthetase and biotinidase produce deficient or defective enzymes inhibiting the activation of the four carboxylases and limiting the recovery of protein bound biotin for reactivation of the carboxylases. (psychiatryadvisor.com)
  • Developmental window of sensorineural deafness in biotinidase-deficient mice. (henryford.com)
  • Maheras KJ, Pindolia K, Wolf B, Gow A. Developmental window of sensorineural deafness in biotinidase-deficient mice. (henryford.com)
  • Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). (wikipedia.org)
  • Individuals lacking functional biotinidase enzymes can still have normal carboxylase activity if they ingest adequate amounts of biotin. (wikipedia.org)
  • In biotinidase deficiency, biotin-dependent enzymes are affected, namely the 4 human carboxylases: acetyl-CoA carboxylase, propionyl-CoA carboxylase, β-methylcrotonyl-CoA carboxylase, and pyruvate CoA carboxylase. (medscape.com)
  • The activity decreases as the size of the peptide increases, so it is likely that in vivo the catabolism of biotin-containing enzymes is by proteolysis, followed by biotinidase action, rather than the release of biotin, leaving the apoenzyme as a substrate for proteolysis. (doctorabel.us)
  • The guideline below was developed to standardize laboratory procedures for enzymatic biotinidase testing, delineate situations for which follow-up molecular testing is warranted, and characterize variables that can influence test performance and interpretation of results. (medicalhomeportal.org)
  • The common biotinidase gene mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population. (nih.gov)
  • Note: as of the time the case was written up here, the SimulConsult Diagnostic Decision Support database does not include any information about hypoplastic fingernails in biotinidase deficiency, though brittle fingernails are described in biotin deficiency diseases. (simulconsult.com)
  • Phenylketonuria, galactosaemia and biotinidase deficiency were the first three inborn errors of metabolism to be included in the Swedish programme. (ki.se)
  • Biotinidase is found in all tissues, including the pancreatic juice and intestinal mucosa. (doctorabel.us)