DeficiencyAcetyl-CoA-carboxyCarboxylaseWater-solubleBiosynthesisEnzymeProteinLipoic acidMetabolismCarboxylasesSodium-dependent multivitamin transporterVitaminLysineProduce biotinTRNA synthetaseCovalent attachmentNeonatal1981TransporterIntestinal floraAbsorptionGenesStreptavidinSupplementationMetaboliteCatalyzesGene ExpressionBacteriaGluconeogenesisIntravenousSMVTImpairmentSubstrateConcentrationsDoses
Deficiency48
- The deficiency can be in biotinidase or holocarboxylase synthetase. (wikipedia.org)
- Holocarboxylase synthetase (HCS) deficiency was defined as a distinct genetic disorder several years after its initial clinical description, similar to the discovery of propionic acidemia. (medscape.com)
- [ 4 ] The late or juvenile-onset type of presentation, which resembled the newly defined neonatal holocarboxylase synthetase deficiency in virtually all respects other than age at onset, still required an explanation. (medscape.com)
- Late-onset multiple carboxylase deficiency is now known to be due to a biotinidase deficiency and subsequent impairment of biotin recycling. (medscape.com)
- Thus, what was originally reported as the disease beta-methylcrotonic aciduria has been separated into 3 distinct genetic disorders: beta-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency, holocarboxylase synthetase deficiency, and biotinidase deficiency . (medscape.com)
- This article focuses on the specific defect recognized as holocarboxylase synthetase deficiency. (medscape.com)
- thus, the infant with holocarboxylase synthetase (HCS) deficiency in utero grows uneventfully. (medscape.com)
- The major clinical findings of holocarboxylase synthetase deficiency include severe ketoacidosis, exfoliative dermatitis, and hypoglycemia . (medscape.com)
- Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (medscape.com)
- Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (medscape.com)
- Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. (medscape.com)
- Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (medscape.com)
- Holocarboxylase synthetase deficiency pre and post newborn screening. (medscape.com)
- A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. (medscape.com)
- Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. (medscape.com)
- Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. (medscape.com)
- A biotin deficiency isn't as common as other deficiencies. (healthline.com)
- Still, a biotin deficiency can occur. (healthline.com)
- The symptoms of biotin deficiency can be confused for many other disorders or issues. (healthline.com)
- They can use these numbers to either confirm or rule out a biotin deficiency. (healthline.com)
- A biotin deficiency is quite rare. (healthline.com)
- There are some other genetic disorders that may also result in biotin deficiency, including holocarboxylase synthetase deficiency, biotin transport deficiency, and phenylketonuria . (healthline.com)
- Holocarboxylase synthetase deficiency and biotin transport deficiency are both extremely rare. (healthline.com)
- How is biotin deficiency treated and prevented? (healthline.com)
- Treatment for a biotin deficiency typically fits into two main categories. (healthline.com)
- Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl -CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. (loinc.org)
- A simple, rapid assay was developed to diagnose holocarboxylase synthetase deficiency. (elsevierpure.com)
- This is an improved assay because it does not require preparation of an apocarboxylase substrate and is suitable for the diagnosis of patients with holocarboxylase synthetase deficiency. (elsevierpure.com)
- Morita, J, Thuy, LP & Sweetman, L 1998, ' Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency ', Molecular genetics and metabolism , vol. 64, no. 4, pp. 250-255. (elsevierpure.com)
- Severe biotin deficiency has been linked to birth defects and impaired immune function in animal studies. (nebraska.edu)
- Whether these effects of marginal biotin deficiency occur spontaneously in humans remains unclear. (nebraska.edu)
- Biotin deficiency is a rare nutritional disorder caused by a deficiency of the water-soluble B vitamin termed biotin. (medscape.com)
- This article discusses biotin deficiency caused by deficiency of the enzyme biotinidase (see also Biotinidase Deficiency). (medscape.com)
- Biotin deficiency rarely, if ever, occurs in healthy individuals who consume a regular diet unless they are being treated either with certain anticonvulsants or with broad-spectrum antibiotics. (medscape.com)
- The extremely low prevalence of biotin deficiency is probably the result of a combination of factors. (medscape.com)
- Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. (beds.ac.uk)
- An enzyme is missing resulting in a deficiency in biotin. (nsu.govt.nz)
- The synthesized quantity is more than the quantity required by the body, thus the chances of biotin deficiency are rare. (beautyhealthtips.in)
- This leads to biotin deficiency. (beautyhealthtips.in)
- Biotin deficiency can be seen in the conditions such as deficiency of biotinidase and enzyme holocarboxylase synthetase. (beautyhealthtips.in)
- Normal plasma level of biotin ranges from 400 to 1200 ng/L whereas the person with biotin deficiency has the biotin level of less than 200 ng/L. (beautyhealthtips.in)
- Most of the studies which concluded that biotin supplementation has an effect on hair growth are done on the patients who have an inherent enzyme deficiency. (beautyhealthtips.in)
- These studies show excellent efficacy of biotin on hair health concluding that biotin is effective in patients with conclusive enzyme deficiency. (beautyhealthtips.in)
- Even in this case, there was the multifactorial cause of hair loss such as seborrheic dermatitis as well as there was biotin deficiency due to the use of isotretinoin, antibiotics, and antiepileptics. (beautyhealthtips.in)
- Biotin deficiency is a not a common disorder as the intentional flora produces biotin which can be used by the body. (beautyhealthtips.in)
- However, in some circumstances, the patient requires a higher level of biotin or there is a biotin deficiency in the body. (beautyhealthtips.in)
- Human biotin deficiency is rare because the microbiota can produce biotin in excess of the body's daily requirements. (medicationsandnutrition.online)
- Measurement of circulating biotin in serum and plasma is not a reliable measure of status because depressed serum biotin is not consistently observed in biotin deficiency. (medicationsandnutrition.online)
Acetyl-CoA-carboxy3
- BirA, the biotin-protein ligase (BPL) of Escherichia coli, is also known as biotin operon repressor, biotin-[acetyl-CoA-carboxylase] ligase, and biotin-[acetyl-CoAcarboxylase] synthetase. (watson-int.cn)
- Acetyl-CoA carboxylase (ACC) is a biotin-dependent enzyme. (pberghei.eu)
- 31785) acetyl-CoA carboxylase%2C biotin carboxylase CP001857 CDS Arcpr_0038 complement(31809. (go.jp)
Carboxylase2
- Reliable markers for biotin status include the activity of propionyl-CoA carboxylase in lymphocytes, and the urinary excretion of biotin and the metabolite 3-hydroxyisovaleric acid. (nebraska.edu)
- Regardless of how biotin is acquired, a dedicated ATP-dependent biotin ligase, or holocarboxylase synthetase (HCS), is required to catalyze the covalent attachment of biotin to a specific lysine in the target carboxylase. (pberghei.eu)
Water-soluble4
- Biotin is a water-soluble vitamin. (healthline.com)
- Biotin is a water-soluble vitamin and serves as a coenzyme for five carboxylases, which catalyze key steps in the metabolism of fatty acids, glucose, and amino acids in humans. (nebraska.edu)
- Biotin is a water-soluble vitamin of the family of Vitamin B complex. (beautyhealthtips.in)
- Biotin is a water soluble vitamin, so excess intake can be easily cleared from the body. (dermatologycolumbus.com)
Biosynthesis3
- Phosphoribosylglycinamide synthetase ( EC 6.3.4.13 ) (GARS) (phosphoribosylamine glycine ligase) [ ( PUBMED:2687276 ) ] catalyses the second step in the de novo biosynthesis of purine. (embl.de)
- BirA functions both as a DNA-binding protein that represses the biotin biosynthesis operon as well as an enzyme that synthesizes its own corepressor, bio-5′-AMP, an intermediate in biotinylation reactions. (watson-int.cn)
- utilized tetracycline-regulatable promoter components to create mycobacterial strains that conditionally exhibit pantothenate synthetase (knockdown stress in conjunction with a fluorescence displacement assay to recognize hits that particularly focus on biotin biosynthesis (19). (icsv20.org)
Enzyme6
- Patients seemed to respond to biotin administration, and each affected enzyme required biotin as a cofactor. (medscape.com)
- The major contribution of Wolf et al was in demonstrating the presence of the enzyme human biotinidase and its role in biotin recycling. (medscape.com)
- Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Glycyl tRNA Synthetase (GARS) in serum, plasma, tissue homogenates and other biological fluids. (hudsen.org)
- Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Glycyl tRNA Synthetase (GARS) in samples from serum, plasma, tissue homogenates and other biological fluids with no significant corss-reactivity with analogues from other species. (hudsen.org)
- also at this step, N-acetylglutamate exerts its regulatory control on the mediating enzyme, carbamyl phosphate synthetase (CPS). (medscape.com)
- Vitamin B12 (B12) is an essential cofactor for two enzymes involved in one-carbon metabolism: methylmalonyl CoA mutase (reduced function of this enzyme results in increased serum methylmalonic acid (MMA) levels) and methionine synthetase (this enzyme catalyzes the remethylmation of homocysteine to methionine) (IOM 1998). (cdc.gov)
Protein8
- A particular allelic variant, the p.L216R mutation, results in an unstable protein with increased turnover and a clinical picture of relative biotin-resistance. (medscape.com)
- Biotin is also necessary to produce keratin, a protein that promotes strong nails and hair. (healthline.com)
- The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. (abnova.com)
- The assay for holocarboxylase synthetase activity therefore requires a protein apocarboxylase substrate which is not readily available. (elsevierpure.com)
- Avidin, an egg protein, makes a complex with biotin and make it unavailable for human use. (beautyhealthtips.in)
- BirA, a member of the group II biotin-protein ligase family, contains an N-terminal helix-turn-helix DNA-binding domain, a catalytic core that catalyzes biotinyl 5′ adenylate (bio-5′-AMP) synthesis, and a C-terminal domain that plays a role in DNA binding, dimerization, and catalytic function. (watson-int.cn)
- BirA biotinylates via the lysine side chain of biotin-accepting proteins/peptides, including natural substrate, carboxyl carrier protein (BCCP),and Avi Tag fusion proteins. (watson-int.cn)
- Once biotinylated, (strept)avidin-biotin interactions can be utilized in a wide variety of applications of biochemistry and cell biology, including protein capture, immobilization, multimerizing, and bridging molecules. (watson-int.cn)
Lipoic acid1
- Anticonvulsants and lipoic acid may interfere with biotin metabolism, thereby increasing biotin requirements. (nebraska.edu)
Metabolism4
- Through this carboxyl group, biotin is linked covalently to the β-amino group of lysine in 4 carboxylases that play critical roles in intermediary metabolism. (medscape.com)
- It is also known as Vitamin H. Biotin mediates a wide variety of chemical reactions inside the body ranging from metabolism of fats, amino acids, and carbohydrates. (beautyhealthtips.in)
- Biotin carboxylases participate in central metabolic processes such as gluconeogenesis, lipogenesis, amino acid metabolism, and energy transduction. (pberghei.eu)
- Perhaps the most unusual feature of biotin metabolism in malaria parasites is the presence of two HCS paralogs (HCS1, HCS2) encoded in the genomes of Plasmodium species. (pberghei.eu)
Carboxylases2
- In all 4 carboxylases, biotin functions as a coenzyme or prosthetic group that serves as a carrier for CO 2 in a multistep reaction. (medscape.com)
- It functions as a CO2 carrier in carboxylation and decarboxylation reactions catalyzed by a small family of enzymes, the biotin carboxylases. (pberghei.eu)
Sodium-dependent multivitamin transporter1
- Holocarboxylase synthetase, biotinidase, sodium-dependent multivitamin transporter, and the biotin transporters SMVT and MCT1 play crucial roles in biotin homeostasis in mammals. (nebraska.edu)
Vitamin4
- Biotin is also sometimes called B-7, vitamin H, or coenzyme R. (healthline.com)
- Biotin is the vitamin which is used as a coenzyme to assist in various metabolic reactions which are essential for the development of healthy hair. (beautyhealthtips.in)
- During the 3rd incubation, streptavidin-coated microparticles and vitamin B 12 labeled with biotin are added and the still-vacant sites of the ruthenium labeled intrinsic factor become occupied. (cdc.gov)
- This forms a ruthenium labeled intrinsic factor-vitamin B 12 biotin complex. (cdc.gov)
Lysine1
- Biotin also regulates gene expression, mediated by biotinylation of lysine residues in histones H2A, H3, and H4, and by various transcription factors. (nebraska.edu)
Produce biotin2
- However, the bacteria in your gut can produce biotin. (healthline.com)
- Additionally, antibiotics destroy the good bacteria in your gut that can naturally produce biotin. (healthline.com)
TRNA synthetase5
- Description: A sandwich quantitative ELISA assay kit for detection of Human Glycyl tRNA Synthetase (GARS) in samples from serum, plasma, tissue homogenates or other biological fluids. (hudsen.org)
- Description: A sandwich ELISA kit for detection of Lysyl tRNA Synthetase from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (jemsec.com)
- tRNA synthetase class II core domain (G, Seryl-tRNA synthetase N-terminal domain [Interproscan]. (ntu.edu.sg)
- 4560 valyl-tRNA synthetase CP001857 CDS Arcpr_0004 4868. (go.jp)
- 55056) tyrosyl-tRNA synthetase CP001857 CDS Arcpr_0065 complement(55112. (go.jp)
Covalent attachment1
- This directed attention toward the work of Lynen, who had previously demonstrated that carbon dioxide fixation in microbes required covalent attachment of the biotin to an apoprotein. (medscape.com)
Neonatal1
- Notable differences included the age at presentation (neonatal to 9 mo), presence of acidosis, and response to biotin administration. (medscape.com)
19811
- Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. (beds.ac.uk)
Transporter1
- monocarboxylate transporter 1 - facilitates the acquisition of biotin into Peripheral Blood Mononuclear Cells (PBMC). (medicationsandnutrition.online)
Intestinal flora1
- Third, the intestinal flora synthesizes significant quantities of biotin, and at least a portion of that biotin is believed to be absorbed into the bloodstream. (medscape.com)
Absorption1
- Evidence regarding the interactions between the drugs carbamazepine, primidone and phenytoin and the nutrients biotin and pantothenate concluded they (prescribed medications) specifically and competitively inhibit biotin absorption via intestinal brush border membranes (Said et al, 1989), and that there is competitive inhibition of absorption between carbamazepine, biotin and pantothenic acid (Said, 1999). (medicationsandnutrition.online)
Genes3
- Individuals carrying mutations in genes coding for holocarboxylase synthetase and biotinidase require lifelong supplementation with pharmacological doses of biotin. (nebraska.edu)
- Synergistic effect of shear stress and streptavidin-biotin on the expression of endothelial vasodilator and cytoskeleton genes. (duke.edu)
- The results suggest (1) the use of SA-biotin to supplement EC adhesion enhances the integrity of the EC cytoskeleton by upregulating the expression of cytoskeleton/ECM genes, and (2) a likely relationship between the expression of cytoskeleton/ECM genes and the downstream events, such as the shear-induced expression of eNOS and COX2 genes. (duke.edu)
Streptavidin2
- Dual ligand treatment of streptavidin(SA)-biotin and fibronectin (Fn) enhances the adhesion of endothelial cells (EC) onto synthetic surfaces and promotes the quiescent phenotype of adherent EC. (duke.edu)
- The entire complex becomes bound to the solid phase via interaction of biotin and streptavidin. (cdc.gov)
Supplementation2
- Various studies have been conducted to demonstrate the efficacy of biotin supplementation on hair health but most of them failed to conclude a favorable result. (beautyhealthtips.in)
- In these cases, apart from the biotin supplementation, various foods are incorporated in the diet of patients. (beautyhealthtips.in)
Metabolite1
- Biotin is an essential metabolite in all known free-living organisms. (pberghei.eu)
Catalyzes2
- Holocarboxylase synthetase first catalyzes the formation of biotinyl-AMP from biotin and ATP, an activity designated as biotinyl-AMP synthetase. (elsevierpure.com)
- Catalyzes the conversion of dethiobiotin to biotin. (or.jp)
Gene Expression2
- Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization. (medscape.com)
- Analyses presented in this study provide insights into the mechanism by which SA-biotin-supplemented EC mediate gene expression. (duke.edu)
Bacteria4
- Biotin is synthesized by the bacteria present in the intestine. (beautyhealthtips.in)
- Biotin is produced in the body by the intestinal bacteria. (beautyhealthtips.in)
- It is to be noted that the biotin produced through intestinal bacteria is sufficient to cater body needs. (beautyhealthtips.in)
- Bacteria, plants, and some fungi can synthesize biotin de novo from a pimeloyl-CoA precursor, but other organisms acquire biotin from their diet or environment. (pberghei.eu)
Gluconeogenesis1
- An important reaction related to the growth of hair and nails assisted by biotin is the gluconeogenesis. (beautyhealthtips.in)
Intravenous1
- This child died 105 hours postdelivery after little improvement from small intravenous doses of megavitamins, including biotin. (medscape.com)
SMVT1
- Both directly and via its various metabolites, chronic alcohol exposure has been found to cause significant inhibition in both SMVT biotin uptake of the microbiota-generated biotin, and the degree of expression of SMVT. (medicationsandnutrition.online)
Substrate1
- At the end of the reaction, unreacted radioactive biotin substrate, which is negatively charged at neutral pH, is bound to an anion-exchange resin and a neutral radioactive biotinylhydroxamate product in the supernatant is counted. (elsevierpure.com)
Concentrations1
- The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. (beds.ac.uk)
Doses1
- the sibling had an excellent clinical response to biotin administration in pharmacologic doses. (medscape.com)