Hydroxylase. Medical search. Frequent questions (1)

21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. (medlineplus.gov)
In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. (medlineplus.gov)
There are three types of 21-hydroxylase deficiency. (medlineplus.gov)
Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. (medlineplus.gov)
Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. (medlineplus.gov)
Some individuals with this type of 21-hydroxylase deficiency have no symptoms of the disorder. (medlineplus.gov)
The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. (medlineplus.gov)
The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. (medlineplus.gov)
21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. (medlineplus.gov)
21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia. (medlineplus.gov)
Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. (medlineplus.gov)
21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. (medlineplus.gov)
The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency. (medlineplus.gov)
17-Hydroxylase (17-OH) deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors. (medscape.com)
Although patients with 17-hydroxylase deficiency are cortisol deficient, they do not typically have adrenal insufficiency or experience adrenal crises. (medscape.com)
The method has been applied for screening patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. (springer.com)
Milunsky A., Tulchinsky D. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (springer.com)
Bacon G.E., Kelch R.P. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge. (springer.com)
Nonclassic 21-hydroxylase deficiency is more common than classic 21-hydroxylase deficiency. (merckmanuals.com)
Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. (uib.no)
Female phenotype in a male child due to 17-alpha-hydroxylase deficiency. (bmj.com)
Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. (bmj.com)
Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). (columbia.edu)
Tian Q, Zhang Y, Lu Z. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases. (medscape.com)
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency. (medscape.com)
Tian Q, Yao F, Zhang Y, Tseng H, Lang J. Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency. (medscape.com)
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. (medscape.com)
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. (medscape.com)
New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency. (medscape.com)
Rosado A, Alegre M, Colon G. [Male pseudohermaphroditism caused by enzymatic deficiency of 17-alpha- hydroxylase. (medscape.com)
Dopamine Beta-hydroxylase Deficiency" Encyclopedia , https://encyclopedia.pub/entry/5417 (accessed December 02, 2023). (encyclopedia.pub)
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. (encyclopedia.pub)
Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. (encyclopedia.pub)
People with dopamine β-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure. (encyclopedia.pub)
Other features of dopamine β-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. (encyclopedia.pub)
Dopamine β-hydroxylase deficiency is a very rare disorder. (encyclopedia.pub)
Mutations in the DBH gene cause dopamine β-hydroxylase deficiency. (encyclopedia.pub)
The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine β-hydroxylase deficiency. (encyclopedia.pub)
Garland EM, Biaggioni I. Dopamine Beta-Hydroxylase Deficiency. (encyclopedia.pub)
The 21-hydroxylase deficiency (21OHD) is the most common form of CAH, accounting for more than 90% of cases. (mssm.edu)
Hormonal testing is important in making the diagnosis of 21-hydroxylase deficiency, yet genetic testing is crucial to secure the diagnosis. (mssm.edu)
The dopamine β-hydroxylase deficiency is a very rare inherited disorder that is characterized in the blood by the lack of norepinephrine and epinephrine. (sciencedict.com)
What is dopamine β-hydroxylase deficiency? (sciencedict.com)
A dopamine-β-hydroxylase deficiency is characterized not only by an increased concentration of dopamine but also by a lack of neurotransmitters and hormones noradrenaline and adrenaline. (sciencedict.com)
In the case of dopamine β-hydroxylase deficiency, the first reaction step does not take place or takes place only inadequately. (sciencedict.com)
Because it only occurs once in each of them, the parents do not suffer from dopamine β-hydroxylase deficiency. (sciencedict.com)
The symptoms of a dopamine-β-hydroxylase deficiency correspond to the failure of the functions of the two hormones noradrenaline and adrenaline. (sciencedict.com)
Orthostatic hypotension and various cardiovascular disorders are among the most important symptoms of dopamine β-hydroxylase deficiency. (sciencedict.com)
In addition, newborns with dopamine β-hydroxylase deficiency often suffer from hypothermia, muscle hypotension and hypoglycaemia. (sciencedict.com)
When diagnosing dopamine β-hydroxylase deficiency, it is not enough to just determine the enzyme dopamine β-hydroxylase. (sciencedict.com)

Tyrosine hydroxylase belongs to the group of hydroxylases of aromatic acids, class oxydoreductases and subgroup oxygenases. (xray.cz)
The tyrosine hydroxylase has the homotetrameric structure and contains three diverse structural domains: N-terminal regulatory domain, catalytic domain and C-terminal tetramerization domain [3]. (xray.cz)
The activity of tyrosine hydroxylase is regulated by phosphorylation and through the regulation of its expression. (xray.cz)
Phosphorylation at Ser-40 by cyclic AMP-dependent protein kinase (PKA) induces the most potent activation of tyrosine hydroxylase. (xray.cz)
The regulatory domain of tyrosine hydroxylase was expressed as six-His-tag fusion protein by IPTG induction for 12 h at 20 C and purified from Escherichia coli BL21(DE3). (xray.cz)
Hence, in this study, the concentrations of tyrosine hydroxylase (TH), choline acetyl transferase (ChAT) and glutamic acid decarboxylase (GAD), the enzymes responsible for their synthesis, were immunohistochemically estimated within the neurons in locus coeruleus, laterodorsal tegmentum and pedunculopontine tegmentum and medial preoptic area in REM sleep deprived and control rats. (nih.gov)
Panaxtriol is a tyrosine hydroxylase inducer. (adooq.com)
Tyrosine Hydroxylase (TH) is a vital enzyme in the generation of L-DOPA from the amino acid tyrosine. (neuromics.com)
Immunofluorescent analysis of rat brain section stained with rabbit antibody to tyrosine hydroxylase, RA22135, dilution 1:10,000, in red and costained with mouse antibody to pNF-H, MO22187, dilution 1:1,000 in green. (neuromics.com)
Animals treated with HAL showed a highly significant 32%-46% loss of tyrosine hydroxylase (TH) immunoreactive neurons in the substantia nigra, and 20% contraction of the TH stained dendritic arbour. (mcmaster.ca)
Our Anti-Tyrosine Hydroxylase (Ser40) rabbit polyclonal phosphospecific primary antibody from PhosphoSolutions is produced in-house. (aveslabs.com)
It detects many mammalian, and many non-mammalian Tyrosine Hydroxylase (Ser40) and is antigen affinity purified from pooled serum. (aveslabs.com)
Bulk Order Inquiry for Anti-Tyrosine Hydroxylase (Ser40) Antibody ------- (please add any order requirements, including desired quantity, timing, etc. (aveslabs.com)
Tyrosine hydroxylase (TH) is the rate-limiting enzyme in the synthesis of the catecholamines Dopamine and Norepinephrine. (aveslabs.com)
Synthetic phospho-peptide corresponding to amino acid residues surrounding Ser40 of rat tyrosine hydroxylase, conjugated to keyhole limpet hemocyanin (KLH). (aveslabs.com)
Specific for endogenous levels of the ~60 kDa tyrosine hydroxylase protein phosphorylated at Ser40. (aveslabs.com)
Our full range of TH antibodies (an abbrevation of Tyrosine Hydroxylase) can be used for applications including western blotting , immunofluorescence and immunohistochemistry . (bio-rad-antibodies.com)
Tyrosine hydroxylase as a target for deltamethrin in the nigrostriatal dopaminergic pathway. (cdc.gov)
To study the effects of deltamethrin on tyrosine hydroxylase in nigrostriatum of male rats. (cdc.gov)
The activities of tyrosine hydroxylase (TH) were also detected by HPLC-fluorescence detection. (cdc.gov)
These findings reveal a novel aspect of deltamethrin neurotoxicity and suggest tyrosine hydroxylase as a molecular target of deltamethin on dopamine metabolism in the nigrostriatal pathway. (cdc.gov)

The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. (medlineplus.gov)
The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. (medlineplus.gov)
Tryptophan hydroxylase-1 (TPH1) is expressed by non-neuronal cells including enterochromaffin cells of the gut, mast cells and the pineal gland and is the rate-limiting enzyme involved in the biosynthesis of peripheral serotonin. (harvard.edu)
These studies suggest that MDMA and its congeners inactivate central tryptophan hydroxylase by inducing oxidation of key enzyme sulfhydryl groups. (erowid.org)
Nepicastat is an inhibitor of dopamine beta-hydroxylase, an enzyme that catalyzes the conversion of dopamine to norepinephrine. (adooq.com)
4-Chloro-DL-phenylalanine is a selective and irreversible inhibitor of tryptophan hydroxylase, a rate-limiting enzyme in the biosynthesis of serotonin (5-HYDROXYTRYPTAMINE). (adooq.com)
The initial step in the metabolic activation process is the introduction of a hydroxyl group at the side chain at C-25 by the hepatic enzyme, CYP 27 (a vitamin D-25-hydroxylase). (medscape.com)
The DBH gene provides instructions for producing the enzyme dopamine β-hydroxylase. (encyclopedia.pub)
DBH gene mutations result in the production of a nonfunctional dopamine β-hydroxylase enzyme. (encyclopedia.pub)
The activity of the enzyme 21-hydroxylase, encoded by the CYP21A2 gene, is deficient, leading to an accumulation of 17-hydroxyprogesterone (17-OHP) and subsequent elevation of androgens. (mssm.edu)
However, a defective enzyme dopamine-β-hydroxylase prevents its formation. (sciencedict.com)
Patients with RD are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. (medscape.com)

Steroid 11-beta-Hydroxylase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
This graph shows the total number of publications written about "Steroid 11-beta-Hydroxylase" by people in this website by year, and whether "Steroid 11-beta-Hydroxylase" was a major or minor topic of these publications. (childrensmercy.org)
Below are the most recent publications written about "Steroid 11-beta-Hydroxylase" by people in Profiles. (childrensmercy.org)

Peripartum dietary supplementation of a small-molecule inhibitor of tryptophan hydroxylase 1 compromises infant, but not maternal, bone. (harvard.edu)

Dopamine Beta Hydroxylase antibody LS-C6444 is an unconjugated sheep polyclonal antibody to human Dopamine Beta Hydroxylase (DBH) (aa596-612). (lsbio.com)

When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens. (medlineplus.gov)
A test result of 21-hydroxylase antibodies at 1 U/mL or higher indicates the presence of adrenal autoantibodies, which is consistent with Addison disease. (medscape.com)

Lysyl hydroxylases (or procollagen-lysine 5-dioxygenases) are alpha-ketoglutarate-dependent hydroxylases enzymes that catalyze the hydroxylation of lysine to hydroxylysine. (wikipedia.org)
The Arabidopsis cytochrome P450 CYP707A encodes ABA 8'-hydroxylases: key enzymes in ABA catabolism. (wikigenes.org)
Prolyl hydroxylase enzymes (PHDs) feeling cellular air upstream of hypoxia-inducible aspect (HIF) signaling, resulting in HIF degradation in normoxic circumstances. (bioskinrevive.com)
The oxygen-sensitive sign event that regulates HIF is certainly mediated by hydroxylase enzymes that regulate the proteins balance and consequent transcriptional activity of HIF (20). (bioskinrevive.com)
Nepicastat hydrochloride is a potent and selective inhibitor of both bovine and human dopamine-β-hydroxylase with IC50 of 8.5 nM and 9 nM, with negligible affinity for twelve other enzymes and thirteen neurotransmitter receptors. (dcchemicals.com)

Changes in Metabolomic Profiles Induced by Switching from an Erythropoiesis-Stimulating Agent to a Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitor in Hemodialysis Patients: A Pilot Study. (bvsalud.org)

Brain tryptophan hydroxylase activity decreases within 15 min after a single administration of 3,4-methylenedioxymethamphetamine. (erowid.org)
In the present study, the effect of body temperature on this acute decrease of tryptophan hydroxylase activity was examined. (erowid.org)
Tryptophan hydroxylase activity measured in the hippocampus, striatum and frontal cortex of hyperthermic rats treated with 3,4-methylenedioxymethamphetamine was decreased to 61%, 65%, and 71% of control levels, respectively, 2 h after drug treatment. (erowid.org)
However, in hypothermic rats, 3,4-methylenedioxymethamphetamine had no effect on tryptophan hydroxylase activity in the hippocampus, striatum or frontal cortex. (erowid.org)
Non-drug-induced hyperthermia or hypothermia did not affect tryptophan hydroxylase activity. (erowid.org)
Since hypothermia may prevent the 3,4-methylenedioxymethamphetamine-induced decrease in tryptophan hydroxylase activity by reducing the formation of free radicals, the effect of a free radical scavenging agent, N-tert-butyl-alpha-phenylnitrone, was examined. (erowid.org)
N-tert-butyl-alpha-phenylnitrone (200 mg/kg, i.p.) alone caused hypothermia but had no direct effect on tryptophan hydroxylase activity. (erowid.org)
Preadministration of N-tert-butyl-alpha-phenylnitrone prevented 3,4-methylenedioxymethamphetamine from raising the temperature above normal and attenuated the drug-induced decrease in tryptophan hydroxylase activity in hippocampus, striatum and frontal cortex. (erowid.org)
These results suggest that body temperature plays a prominent role in the 3,4-methylenedioxymethamphetamine-induced acute decrease in tryptophan hydroxylase activity. (erowid.org)

Identification of New Non-BBB Permeable Tryptophan Hydroxylase Inhibitors for Treating Obesity and Fatty Liver Disease. (harvard.edu)
Although both quinidine and quinine are competitive inhibitors of debrisoquine 4-hydroxylase activity in rat and man, their potency is reversed. (nih.gov)
Hypoxia -inducible factor prolyl hydroxylase inhibitors (HIF-PHIs) are a new class of medications for managing renal anemia in patients with chronic kidney disease (CKD). (bvsalud.org)

People who lack functional dopamine β-hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. (encyclopedia.pub)

In this project we try to unravel the reaction mechanism of collagen prolyl 4-hydroxylase (C-P4H). (oulu.fi)

Ro 61-8048 is a potent and competitive kynurenine 3-hydroxylase inhibitor (Ki = 4.8 nM, IC50 = 37 nM). (adooq.com)
Osilodrostat (LCI699) is a potent inhibitor of human 11β-hydroxylase and aldosterone synthase with IC50 values of 2.5 and 0.7 nM, respectively. (adooq.com)
Telotristat (LP-778902) is a potent tryptophan hydroxylase inhibitor with an in vivo IC50 of 0.028 μM. (adooq.com)
Quinidine is a potent inhibitor of debrisoquine 4-hydroxylase activity of human liver (IC50: 3.6 microM). (nih.gov)

21-Hydroxylase antibodies are markers of autoimmune Addison disease, which may manifest alone or as part of type I or type II polyglandular autoimmune syndrome. (medscape.com)
The reference range of 21-hydroxylase antibodies for all ages and both sexes is less than 1 U/mL. (medscape.com)

TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients. (nih.gov)
However, here we report that Tph1 (−/−) mice display altered gait dynamics and deficits in rearing behavior compared to wild-type (WT) suggesting that tryptophan hydroxylase-1 expression has an impact on the nervous system. (harvard.edu)
Rodatristat (KAR5417) is a potent tryptophan hydroxylase 1 (TPH1) and TPH2 inhibitor with IC50s value of 33 nM and 7 nM, respectively, and shows robust reduction of intestinal serotonin (5-HT) levels in mice. (adooq.com)
Rodatristat ethyl (KAR5585) is a first-in-class oral tryptophan hydroxylase 1 (TPH1) Inhibitor with nanomolar in vitro potency. (adooq.com)

This gene encodes a member of the aromatic amino acid hydroxylase family. (nih.gov)
This is an autosomal recessive mutation of a gene on chromosome 9, which encodes dopamine β-hydroxylase as the DBH gene. (sciencedict.com)

The kinetics of inhibition of debrisoquine 4-hydroxylase activity by quinidine and quinine in rat and human liver microsomes have been compared. (nih.gov)
Inhibition of p-nitrophenol hydroxylase in rat liver microsomes by small aromatic and heterocyclic molecules. (aspetjournals.org)

LX 1606 hippurate is an orally bioavailable, small-molecule, tryptophan hydroxylase (TPH) inhibitor with potential antiserotonergic activity. (adooq.com)

The activity of tryptophan hydroxylase (EC 1.14.16.4) from rat brain was significantly decreased 1 h following a single systemic injection of 3,4-methylenedioxymethamphetamine (MDMA) when assessed ex vivo by radioenzymatic assay or in vivo by the quantitation of 5-hydroxytryptophan accumulation following central L-aromatic amino acid decarboxylase inhibition. (erowid.org)

Metyrapone is an inhibitor of cytochrome P450-mediated ω/ω-1 hydroxylase activity and CYP11B1. (adooq.com)

Tryptophan hydroxylase 1 drives glioma progression by modulating the serotonin/L1CAM/NF-κB signaling pathway. (nih.gov)
LX-1031 is a potent, orally available tryptophan 5-hydroxylase (TPH) inhibitor that reduces serotonin (5-HT) synthesis peripherally. (adooq.com)

Lysyl hydroxylases require iron and vitamin C as cofactors for their oxidation activity. (wikipedia.org)
Both compounds are able to inhibit greater than 95% of 4-hydroxylase activity. (nih.gov)
Inhibition of debrisoquine 4-hydroxylase activity by both quinine and quinidine in human and rat liver is competitive. (nih.gov)
Figure 5: The β-hydroxylase activity of ASPH is required for its transforming activity. (oncotarget.com)
The results suggest that the β-hydroxylase activity of ASPH is essential for Notch signaling activation. (oncotarget.com)

"In vitro reactivation of rat cortical tryptophan hydroxylase following in vivo inactivation by methylenedioxymethamphetamine" J Neurochem . (erowid.org)

There are three lysyl hydroxylases (LH1-3) encoded in the human genome, namely: PLOD1, PLOD2 and PLOD3. (wikipedia.org)
We further demonstrate that the procollagen lysyl hydroxylase ( PLOD1) promoter is regulated by Nkx2.5. (lu.se)

Although mutation of six conserved residues activated phenol hydroxylase in steady-state assays, the double mutant M37T/V77A, resulting from random mutagenesis, did not activate phenol hydroxylase. (concordia.ca)

Assembly of the binuclear iron center in the oxygenase component of phenol hydroxylase was examined in the presence and absence of DmpK, a protein required for in vivo synthesis of active oxygenase. (concordia.ca)

MDMA-inactivated cortical tryptophan hydroxylase derived from rats killed later than 3 days after drug treatment could not be significantly reactivated under the conditions described above, indicating the development of irreversible enzymatic damage. (erowid.org)

Dysfunction of human phenylalanine hydroxylase (hPAH, EC 1.14.16.1) is the primary cause of phenylketonuria, the most common inborn error of amino acid metabolism. (rcsb.org)

In the first reaction step, dopamine is oxidized to norepinephrine with the help of the enzymatic support of dopamine-β-hydroxylase with the addition of an additional OH group on the C3 atom. (sciencedict.com)

Anatomy26

Organisms16

Diseases18

Chemicals and Drugs146

Analytical, Diagnostic and Therapeutic Techniques and Equipment14

Phenomena and Processes31

Disciplines and Occupations1

Information Science3

Deficiency50

Tyrosine21

Enzyme12

Steroid3

Inhibitor of tryptophan hydroxylase1

Antibody1

Adrenal2

Enzymes5

Prolyl hydroxylase inhibitor1

Tryptophan hydroxylase activity9

Inhibitors3

Dopamine to norepinephrine1

Collagen1

IC504

Antibodies2

TPH14

Encodes2

Liver microsomes2

Orally bioavailable1

Aromatic1

Cytochrome1

Serotonin2

Activity5

Inactivation1

PLOD12

Residues1

Protein1

Rats1

Human1

Enzymatic1