Mutations pyruvate kinase. Medical search. Frequent questions

Pyruvate kinase PKLR is an enzyme that in humans is encoded by the PKLR gene. (wikipedia.org)
Pyruvate kinase deficiency is caused by mutations in the PKLR gene. (medlineplus.gov)
PKLR gene mutations result in reduced pyruvate kinase enzyme function, causing a shortage of ATP in red blood cells and increased levels of other molecules produced earlier in the glycolysis process. (medlineplus.gov)
It is caused by mutations in the PKLR gene. (medscape.com)
Predictors of a response to splenectomy included higher presplenectomy hemoglobin, lower indirect bilirubin, and missense PKLR mutations. (medscape.com)
Genetic testing of the PKLR gene will reliably determine whether a dog is a genetic Carrier of pyruvate kinase deficiency (terrier type). (pawprintgenetics.com)
Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the PKLR gene mutation. (pawprintgenetics.com)
The exome sequencing quickly pinpointed two separate, rare mutations in PKLR, a gene that makes pyruvate kinase, an enzyme in which defects have previously been implicated as one cause of hemolytic anemia. (chop.edu)
PKD is caused by alterations (mutations) in the PKLR gene, which lead to a deficiency of the enzyme pyruvate kinase. (olympusresearchglobal.com)
The PKLR gene contains instructions for creating (encoding) a specialized protein (enzyme) known as pyruvate kinase. (olympusresearchglobal.com)
Genetic analysis showing PKLR mutations is diagnostic. (olympusresearchglobal.com)
PK deficiency is caused by a mutation in the PKLR gene which encodes the pyruvate kinase enzyme. (noblemanes.org)
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. (cdc.gov)
The drug is being developed for PKD deficiency , a genetic disorder, which is caused by a mutation in the PKLR gene. (rootsanalysis.com)
Testing for PK deficiency can be done by measuring PK activity in RBCs (biochemical testing) and/or by identifying a pathogenic PKLR gene mutation (genetic testing). (exploremyplan.com)
The diagnosis of PKD is confirmed in a patient with hemolytic anemia (or compensated hemolysis) who has laboratory evidence of reduced RBC PK enzymatic activity and/or genetic evidence or pathogenic PKLR mutations. (exploremyplan.com)
PIRUVATKINASE DEFICIT (PKDEF): N / N - Homozygous for the normal allele (both copies of the PKLR gene do not contain the mutation). (mainecoon-russia.ru)
k / k - Homozygote for the mutant allele (both copies of the PKLR gene contain the mutation). (mainecoon-russia.ru)

Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). (wikipedia.org)
Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. (medlineplus.gov)
In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. (medlineplus.gov)
Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. (medlineplus.gov)
Pyruvate kinase deficiency, one of the most common enzymatic defects of the erythrocyte, manifests clinically as a hemolytic anemia that can range from a mildly compensated anemia to severe anemia of childhood. (medscape.com)
Mitapivat is the first disease-modifying therapy approved for hemolytic anemia in adults with pyruvate kinase deficiency. (medscape.com)
Pyruvate Kinase (PK) Deficiency presents as a chronic, intermittent, hemolytic anemia. (wisdompanel.com)
Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far. (unl.pt)
Hemolytic anemia caused by hereditary pyruvate kinase deficiency in the West Highland White Terrier dog. (pawprintgenetics.com)
Schaer M, Harvey JW, Calderwood-Mays M, Giger U. Pyruvate kinase deficiency causing hemolytic anemia with secondary hemochromatosis in Cairn terrier. (pawprintgenetics.com)
Those mutations caused a different disease, unrelated to ADHD - a blood disorder called idiopathic hemolytic anemia . (chop.edu)
Pyruvate kinase deficiency (PKD) is a rare genetic disorder characterized by the premature destruction of red bloods, which is called hemolytic anemia. (olympusresearchglobal.com)
Pyruvate Kinase Deficiency, now identified in a number of breeds, leads to chronic severe hemolytic anemia, weakness, and hepatosplenomegaly causing bone marrow and liver failure in mature animals. (dogwellnet.com)
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. (dogwellnet.com)
Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. (wisdompanel.com)
Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. (wisdompanel.com)
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. (wisdompanel.com)
Pyruvate kinase deficiency is a hereditary disease with an autosomal recessive mode of inheritance, accompanied by hemolytic anemia. (mainecoon-russia.ru)
Pyruvate kinase deficiency leads to erythrocyte instability, periodically manifested by hemolytic anemia. (mainecoon-russia.ru)
In all of these pathway defects, hemolytic anemia occurs only in patients who are homozygous for the mutation. (msdmanuals.com)

Please note: It is possible that disease signs similar to the ones caused by the Pyruvate Kinase Deficiency mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait. (pawprintgenetics.com)
With appropriate genetic counseling, the genetic information can be helpful to this patient, as he is extremely unlikely to pass on anemia to any future children, because of the recessive nature of the illness and the rarity of these specific mutations. (chop.edu)
Genetic mutations affect the CFTR gene, which is essential for the regulation of salt and water movements across cell membranes. (nihr.ac.uk)
According to Darwinian evolutionary theory, evolutionary process can be attributed to the presence of genetic mutations between parental and offspring generations [ 7 ]. (biomedcentral.com)
Whitney, K.M., Lothrop, C.D. : Genetic test for pyruvate kinase deficiency of basenjis Journal of the American Veterinary Medical Association 207:918-921, 1995. (dogwellnet.com)
Please note: It is possible that disease signs similar to the ones caused by the PKD mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
Genetic test for pyruvate kinase deficiency of Basenjis. (wisdompanel.com)
Other times the founder cat has a spontaneous genetic mutation, like the hairless mutation in Sphynx or the tailless mutation of Manx. (basepaws.com)
Genetic ablation of ketohexokinase or stimulation of pyruvate kinase prevents villus elongation and abolishes the nutrient absorption and tumour growth that are induced by feeding mice with high-fructose corn syrup. (nature.com)
Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic neoplastic disorder caused by germline mutation or deletion of the VHL gene, characterized by the tendency to develop multisystem benign or malignant tumors. (biomedcentral.com)
Early identification affected individuals with asymptomatic VHL disease-associated tumors and mutation carriers via genetic recognition and rational medical interventions would improve patients' survival rates and quality of life. (biomedcentral.com)
SMA ) is a recessively inherited genetic disorder in Maine Coon cats caused by a mutation in the LIX1 gene. (noblemanes.org)
PIK3CA-Related Overgrowth Spectrum (PROS) is considered a rare disease that includes a group of genetic disorders, which leads to overgrowth of various body parts due to PIK3CA mutations. (conduent.com)
RP-L301 is a lentiviral vector (LVV)-based gene therapy for the treatment of Pyruvate Kinase Deficiency (PKD) , a genetic rare disease. (rootsanalysis.com)
Riesselman A, Ingraham J, Marks D, Deep generative models of genetic variation capture the effects of mutations, Nat Methods;15(10):816-822. (lu.se)

Comorbidities and complications in adults with pyruvate kinase deficiency. (cdc.gov)

An international, multicenter registry that collected clinical data on patients with pyruvate kinase deficiency found that 93% of newborns were treated with phototherapy, and 46% were treated with exchange transfusions. (medscape.com)
The enzyme activity rate in most patients with pyruvate kinase deficiency is 5-25% of normal, with measurement of the intermediates (2,3-diphosphoglycerol and glucose-6-phosphate) proximal to the enzyme defect helping to confirm the diagnosis. (medscape.com)
It improves hemoglobin values and reduces transfusion burden in patients with pyruvate kinase deficiency by targeting the underlying defect. (medscape.com)
Hemolysis and anemia persist after splenectomy, although some improvement may occur, particularly in patients with pyruvate kinase deficiency. (msdmanuals.com)

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats. (wisdompanel.com)
Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK. (pawprintgenetics.com)
Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. (pawprintgenetics.com)
Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. (wisdompanel.com)

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. (wisdompanel.com)
Pyruvate kinase deficiency (terrier type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)

gene family members and many various other essential genes, including null mutation created epidermal hyperplasia and hyperkeratosis [63]. (bioshockinfinitereleasedate.com)

The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. (medlineplus.gov)
Pyruvate kinase is an enzyme that helps cells turn sugar (glucose) into energy (called adenosine triphosphate, ATP) in a process called glycolysis. (olympusresearchglobal.com)
This involved the upregulation of glycolytic enzymes, increased glucose-6-phosphate levels, and the over-expression of pyruvate dehydrogenase kinase 1 protein, which reroutes the bioenergetic flux toward glycolysis. (mdc-berlin.de)
Pyruvate kinase is one of the key regulatory enzymes of glycolysis (glucose breakdown), it catalyzes the formation of ATP - the main "energy currency" of the body's cells. (mainecoon-russia.ru)
It involves a sequence of enzymatic reactions that break down glucose (glycolysis) into pyruvate, creating the energy sources adenosine triphosphate (ATP) and nicotinamide adenine dinucleotide (NADH). (msdmanuals.com)

Four cases were diagnosed with red cell membrane protein defects, four patients were diagnosed with pyruvate kinase deficiency, one case of adenylate kinase deficiency, one case of glucose phosphate isomerase deficiency, one case of hereditary xerocytosis, three cases having combined membrane and enzyme defect, two cases with Diamond-Blackfan anemia (DBA) and 1 with CDA type II with 26 different mutations, of which 21 are novel. (elsevierpure.com)

Fig. 2: Fructose metabolism enhances hypoxic cell survival and decreases pyruvate kinase activity. (nature.com)
In addition, highly active glyoxylate shunt fluxes and a pyruvate/acetate cycle are indicators of overflow glycolytic metabolism in the tested conditions. (biomedcentral.com)
Pyruvate Kinase Deficiency (PKD) is a disorder that affects red blood cells due to a mutation in an important enzyme needed for metabolism. (mabrylabrador.com)
Pathways of pyruvate metabolism and oxidative phosphorylation. (bmj.com)

In turn, PDK inhibits the key mitochondrial energy homeostat, pyruvate dehydrogenase complex (PDC), by reversible phosphorylation. (srcinhibitors.com)
Most identifiable cases involve inherited or spontaneous mutations in the pyruvate dehydrogenase complex (PDC) or in one or more enzymes of the respiratory chain. (bmj.com)

MAIN COON HYPERTROPHIC CARDIOMYOPATHY (HCMMC): N / N - Homozygous for the normal allele (both copies of the MYBPC3 gene do not contain the A31P mutation). (mainecoon-russia.ru)

Affected individuals are either homozygous for a single pathogenic mutation or compound heterozygous for two different pathogenic variants affecting the function of the pyruvate kinase enzyme in red blood cells and liver. (conduent.com)
Furthermore, the expression of GLUT2 and the glycolytic enzymes glucokinase and liver pyruvate kinase are reduced in pancreatic islets of Hnf-1α −/− mice compared with wild-type mice ( 6 ). (diabetesjournals.org)

Red cells rely on this process for energy, and so, pyruvate kinase deficiency leads to a deficiency in energy and to premature red cell destruction (hemolysis). (olympusresearchglobal.com)

A diagnosis of pyruvate kinase deficiency is based upon identification of characteristic symptoms (e.g., active hemolysis), a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized tests. (olympusresearchglobal.com)
Pyruvate kinase deficiency is an inherited red blood cell enzyme disorder that causes chronic hemolysis. (conduent.com)
Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. (exploremyplan.com)

Mammalian pyruvate kinase exists in four isoforms with characteristics tuned to specific metabolic requirements of different tissues. (utmb.edu)

Alpelisib is small-molecule inhibitor of phosphatidylinositol-3 kinase (PI3K). (conduent.com)

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. (unl.pt)
Together, our findings highlight the crucial role of pVHL-HIF dysregulation in VHL disease and strengthen the clinical relevance and significance of the missense mutations of Ser65 residue in pVHL in the familial VHL disease. (biomedcentral.com)

The protein encoded by this gene is a pyruvate kinase that catalyzes the production of pyruvate and ATP from phosphoenolpyruvate. (wikipedia.org)
Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy. (mda.org)
When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. (olympusresearchglobal.com)
We used an ensemble-based algorithm to characterize the effects of mutations on the thermodynamics of protein conformational fluctuations. (utmb.edu)
This correlation suggests that mutations that allow viral growth, while reducing neutralization, do not generate significant structural changes and underscores the importance of protein fluctuations and long-range interactions in the mechanism of antibody-mediated neutralization resistance. (utmb.edu)
We observed gain of functions in VHL mutations, thereby stabilizing HIF2α protein and reprograming HIF2α genome-wide target gene transcriptional programs. (biomedcentral.com)
Germline heterozygous mutation of the VHL tumor suppressor gene, located on 3p25.3, encoding VHL tumor suppressor protein (pVHL), has been identified as the leading cause of VHL disease. (biomedcentral.com)
This gene contains instructions for creating a specialized protein (enzyme) known as pyruvate kinase, which is vital for the breakdown of adenosine triphosphate ( ATP ) - the energy-carrying-molecule. (rootsanalysis.com)

Phase 1 Single- and Multiple-Ascending-Dose Randomized Studies of the Safety, Pharmacokinetics, and Pharmacodynamics of AG-348, a First-in-Class Allosteric Activator of Pyruvate Kinase R, in Healthy Volunteers. (cdc.gov)
Mitapivat is a pyruvate kinase activator that acts by allosterically binding to the pyruvate kinase tetramer and increasing pyruvate kinase activity. (conduent.com)

PK converts phosphoenolpyruvate to pyruvate. (exploremyplan.com)
2 4 A few cases have been reported that involve deficiencies in enzymes of the tricarboxylic acid cycle, such as fumarase, or of gluconeogenesis, such as pyruvate carboxylase (PC) or phosphoenolpyruvate carboxykinase (PEPCK). (bmj.com)

Pyruvate kinase M2 activators promote tetramer formation and suppress tumorigenesis. (nature.com)

Peripheral blood smear in a child with splenectomy and pyruvate kinase deficiency. (medscape.com)

Under aerobic conditions, the activity of PDC determines the rate at which all cells oxidise glucose, pyruvate, and lactate. (bmj.com)

The drug dichloroacetate (DCA) inhibits the kinase responsible for phosphorylating PDH, thus 'locking' the enzyme in its unphosphorylated, catalytically active state. (bmj.com)

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. (mda.org)

The fixed-dose combination (FDC) tezacaftor/ivacaftor-FDC has received approval for patients with cystic fibrosis (CF) aged 12 years and older who are homozygous for the F508del mutation or who are heterozygous for the F508del mutation and one of a number of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (nihr.ac.uk)
N / HCMmc - Heterozygous for the mutant allele (one of the copies of the MYBPC3 gene contains the A31P mutation). (mainecoon-russia.ru)

Thus, confirming "Pathogenic" probability of the responsible mutation is particularly essential. (biomedcentral.com)

Pyruvate kinase deficiency and malaria. (medlineplus.gov)
Nowadays, it occurs in Santiago Island alone and though prophylaxis is not recommended by the World Health Organization, studies have highlight the prospect of malaria becoming a serious public health problem as a result of the presence of antimalarial drug resistance associated with mutations in the parasite populations and underscore the need for tighter surveillance. (unl.pt)

Affected dogs have insufficient activity of the pyruvate kinase Enzyme which breaks down glycogen for energy. (pawprintgenetics.com)
DNA testing for pyruvate kinase deficiency and glycogen storage deficiency which tests whether or not a cat has the potential to be affected by these conditions. (purina.co.uk)

Inhibition of pyruvate kinase M2 by reactive oxygen species contributes to cellular antioxidant responses. (nature.com)

Researchers seeking rare gene variants in just a few individuals with attention-deficit hyperactivity disorder (ADHD) discovered that one patient had a novel combination of two mutations. (chop.edu)
Genotype variants: N / N - Homozygous for the normal allele (both copies of the MYBPC3 gene do not contain the A31P mutation). (mainecoon-russia.ru)

The updated test can detect the 'b' mutation which is reposnible for blood group 'B' more accurately than before and in more breeds, and the 'c' mutation which is repsonsible for blood group 'AB' in Ragdoll and Bengal can now be detected. (laboklin.co.uk)

Cats homozygous for this mutation are born without evidence of clinical disease or detectable abnormalities in the eye during a clinical exam, the disease develops slowly over time. (noblemanes.org)
The (CRX) mutation causes an "early-onset" disease with clinical signs evident by 4-5 weeks of age. (noblemanes.org)
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. (cdc.gov)
Carrier dogs do not typically show symptoms of the disease and it may be difficult to detect clinical signs of the condition in inactive affected dogs so it is useful to test for the presence of the mutation before breeding. (mabrylabrador.com)
gif A74T mutation - the connection of this mutation with the clinical manifestation of the disease in Maine Coons has not been proven. (mainecoon-russia.ru)
No clear genotype-phenotype correlation between molecular and clinical phenotypes is known, with the exemption of mutations in E2, which cause thiamine-responsive maple syrup urine disease. (medscape.com)

Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. (medlineplus.gov)
Pyruvate Kinase (PK) Deficiency is a disorder that causes anemia due to the breakdown of red blood cells. (wisdompanel.com)

and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. (medlineplus.gov)
Genomic instability caused by mutation of the checkpoint molecule TP53 may endow cancer cells with the ability to undergo genomic evolution to survive stress and treatment. (biomedcentral.com)
Instead of lasting 120 days, red cells with pyruvate kinase deficiency last only a few days to weeks. (olympusresearchglobal.com)
Pyruvate kinase (PK) is an enzyme needed for normal energy production by the red blood cells. (wisdompanel.com)
Massively parallel pyrosequencing of mtDNA revealed that human iPSCs derived from young healthy donors harbored single base mtDNA mutations (substitutions, insertions, and deletions), both homoplasmic (in all mtDNA molecules) and heteroplasmic (in a fraction of mtDNAs), not present in the parental cells. (mdc-berlin.de)
Pyruvate kinase deficiency which is a disease that causes anaemia (death of red blood cells). (purina.co.uk)
Pyruvate kinase is the main enzyme found in erythrocytes and ensures the physical activity of blood cells. (mainecoon-russia.ru)

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (mda.org)
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (mda.org)
Pyruvate kinase deficiency (terrier type) is an inhered metabolic disease affecting dogs. (pawprintgenetics.com)
In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation , there is a risk of having affected pups. (pawprintgenetics.com)
As we sequence whole genomes, we will find new mutations unrelated to the disease under investigation," he added. (chop.edu)
Then they sequenced and analyzed the exomes to identify gene mutations with a likelihood of causing disease. (chop.edu)
Olympus Research Global's (ORG) "Pyruvate Kinase Deficiency (PKD) - Market Insights, Epidemiology, Industry trends & Market Forecast-2034" report provides an overview of the disease and market size of Pyruvate Kinase Deficiency (PKD) for the seven major markets i.e., the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. (olympusresearchglobal.com)
2005. The presence or absence of the A31P mutation does not indicate the presence or absence of the disease, but only characterizes the degree of risk of its development. (mainecoon-russia.ru)
Mutations in E1, E2, or E3 cause maple syrup urine disease. (medscape.com)

Mutations in the epitopes of antigenic proteins can confer viral resistance to antibody-mediated neutralization. (utmb.edu)
Mutations that allow the ED3 to evade detection by the antibody either increase or decrease conformational fluctuations of the epitopes through local effects or long-range interactions. (utmb.edu)

The BCKD enzyme complex, which is associated with the inner mitochondrial membrane, has 3 different catalytic components (ie, E1, E2, E3) and 2 associated regulatory enzymes (ie, BCKD phosphatase, BCKD kinase). (medscape.com)

This form of anemia is recessive, so the man received one mutation from his mother, the other mutation from his father. (chop.edu)

Most likely the most convincing evidence of an integral function for PI3K-dependent pathways in epidermis derives through the observation that germline mutations of result in several severe disorders referred to as PTEN hamartoma tumour syndromes (PHTS) that are characterised by hyperplastic adjustments in your skin [68]. (bioshockinfinitereleasedate.com)

However, they did find other mutations that appear to cause chronic anemia in one family member. (chop.edu)

Enzyme assay, as well as deoxyribonucleic acid (DNA) analysis with a polymerase chain reaction (PCR) assay or single-strand conformation polymorphism, can also be used to confirm the diagnosis of pyruvate kinase deficiency. (medscape.com)

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. (mda.org)

[ 10 ] Mutations in the regulatory enzymes have not been reported. (medscape.com)

Mutations in E3 cause additional deficiencies of pyruvate and alpha-ketoglutarate dehydrogenases. (medscape.com)

which means both copies of the gene in each cell have mutations. (medlineplus.gov)
A carrier cat with one copy of the Pyruvate Kinase Deficiency mutation can be safely bred with a clear cat with no copies of the Pyruvate Kinase Deficiency mutation. (wisdompanel.com)
About half of the kittens will have one copy (carriers) and half will have no copies of the Pyruvate Kinase Deficiency mutation. (wisdompanel.com)
A carrier dog with one copy of the PKD mutation can be safely bred with a clear dog with no copies of the PKD mutation. (wisdompanel.com)
About half of the puppies will have one copy (carriers) and half will have no copies of the PKD mutation. (wisdompanel.com)
HCMmc / HCMmc - Homozygous for the mutant allele (both copies of the MYBPC3 gene contain the A31P mutation). (mainecoon-russia.ru)

Increases in the intramitochondrial ratios of NADH/NAD and acetyl CoA/CoA also stimulate kinase mediated phosphorylation of PDC. (bmj.com)

Anatomy14

Organisms7

Diseases6

Chemicals and Drugs144

Analytical, Diagnostic and Therapeutic Techniques and Equipment19

Phenomena and Processes64

Technology, Industry, Agriculture1

Information Science3

Health Care2

PKLR18

Hemolytic20

Genetic16

Adults with pyruvate kinase def1

Patients with pyruvate kinase def4

Erythrocyte pyruvate4

Autosomal2

Genes1

Glycolysis5

Defects1

Metabolism4

Dehydrogenase complex2

Hypertrophic Cardiomyopathy1

Liver2

Deficiency leads1

Hemolysis3

Mammalian1

Small molecule1

Missense2

Protein8

Activator2

Phosphoenolpyruvate2

Tetramer1

Splenectomy1

Glucose1

Inhibits1

Spinal Muscula1

Heterozygous2

Pathogenic1

Malaria2

Glycogen2

Inhibition1

Variants2

Breeds1

Clinical6

Disorder2

Cells7

Disease9

Antibody2

Mitochondrial1

Recessive1

Severe1

Anemia1

Diagnosis1

TRPV41

Regulatory enzymes1

Deficiencies1

Copies6

Phosphorylation1