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2,263 Possible Causes for ARG132CYS, DEFICIENCY,, KINASE, PYRUVATE

  • Pyruvate Kinase Deficiency

    Pyruvate kinase (PK) is an enzyme responsible for conversion of phosphoenolpyruvate (PEP) to pyruvate, the last step in the glycolysis pathway that allows entry of pyruvate[symptoma.com] Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells . , Hoffman, Ronald; Jr, Edward J[en.wikipedia.org] […] and in three homozygous patients with pyruvate kinase deficiency.[ncbi.nlm.nih.gov] In humans, pyruvate kinase deficiency is the second most common erythrocyte enzyme disorder.[ncbi.nlm.nih.gov]

    Missing: ARG132CYS
  • Vitamin Deficiency

    The incidence of thiamine deficiency was 31% as assessed by the activation of transketolase, and 55% as assessed by the pyruvate tolerance test.[ncbi.nlm.nih.gov] Glycogen synthase kinase 3beta (GSK3beta) is one of the most important protein kinase in regulating tau phosphorylation; overexpression of active GSK3beta causes ADlike hyperphosphorylation[ncbi.nlm.nih.gov] Abstract The oral manifestations of vitamin deficiencies are often the first indications of malnutrition.[ncbi.nlm.nih.gov] Vitamin K – Vitamin K deficiency is caused by chronic illness, malnutrition, alcoholism, multiple surgeries in the abdomen, cholestatic disease, cystic fibrosis, inflammatory[symptoma.com]

    Missing: ARG132CYS
  • Biotin Deficiency

    Deficiency of pyruvate carboxylase (PC) activity in the brains of the young animals (70%) is higher than has been reported before.[ncbi.nlm.nih.gov] Abstract Several of the clinical and biochemical manifestations of biotin deficiency also occur in severe protein-energy malnutrition (PEM).[ncbi.nlm.nih.gov] Investigations into the mechanisms suggested that impaired activation of AMP kinase in DCs cultured in BDM may be responsible for the observed increase in inflammatory responses[ncbi.nlm.nih.gov] A) Pyruvate carboxylase B) Phospho enol pyruvate carboxy kinase C) Glucose-6-phosphatase D) Fructose 1, 6 bisphosphatase E) Phosphoglycerate kinase.[usmle.biochemistryformedics.com]

    Missing: ARG132CYS
  • Wernicke Encephalopathy

    Thiamine is a cofactor for pyruvate dehydrogenase.[blog.ercast.org] This is the first reported epidemic of WE secondary to thiamine-deficient infant formula.[ncbi.nlm.nih.gov] OBJECTIVE: The aim of the study was to report a case of Wernicke encephalopathy (WE) due to fedratinib (Janus Kinase 2 inhibitor) treatment with atypical neuroimaging findings[ncbi.nlm.nih.gov] […] aminotransferase: 125 U/L (normal range, 5-34 U/L); alanine aminotransferase: 74 U/L (normal range, 0-55 U/L); g-glutamyl transferase: 98 U/L (normal range, 9-36 U/L); creatine kinase[jpma.org.pk]

    Missing: ARG132CYS
  • Selenium Deficiency

    […] parenteral nutrition for about 1 1/2 yr developed intermittent leg muscle pain and tenderness and elevation in serum activities of glutamic oxaloacetic transaminase, glutamic pyruvic[ncbi.nlm.nih.gov] Selenium deficiency occurs due to an insufficient dietary intake of selenium.[symptoma.com] Abstract Skeletal muscle disorders manifested by muscle pain, fatigue, proximal weakness, and serum creatine kinase (CK) elevation have been reported in patients with selenium[ncbi.nlm.nih.gov] Laboratory studies showed a rapid rise in creatine kinase to 5638 (normal 35–169) IU/l. Other myogenic enzymes such as myoglobin and aldolase were also raised.[jnnp.bmj.com]

    Missing: ARG132CYS
  • GLUT1 Deficiency Syndrome

    It is currently a recognised treatment for intractable (drug resistant) epilepsy, Glut 1 Deficiency Syndrome and Pyruvate Dehydrogenase Deficiency.[matthewsfriends.org] Through in vitro kinase assays, mass spectrometry, and phosphospecific antibodies, we identify serine 226 in GLUT1 as a PKC phosphorylation site.[ncbi.nlm.nih.gov] Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency.[ncbi.nlm.nih.gov] These substances including green tea catechins, caffeine, tyrosine kinase inhibitors, genistein, GTP analogs, ethanol, androgens, tricyclic antidepressants, general anaesthetics[themedicalbiochemistrypage.org]

    Missing: ARG132CYS
  • Canavan Disease

    Pyruvate and ketone bodies oxidation rates and the activity of cytochrome-c oxidase were normal.[ncbi.nlm.nih.gov] Biochemical measurements indicated that synaptosomal membranes prepared from the striatum but not from the cerebral cortex were deficient in protein kinase activity based[link.springer.com] The underlying biochemical abnormality in CD is a hereditary deficiency of N-aspartoacylase transmitted in an autosomal recessive fashion.[ncbi.nlm.nih.gov] We present for the first time an ultrasound follow-up in a proven case of aspartoacylase deficiency from 3 weeks to 22 months.[ncbi.nlm.nih.gov]

    Missing: ARG132CYS
  • Heart Valve Disease

    Most solutions also included a nutrient—glucose, pyruvate, glutamine, or a supplement mixture called F-12—to stimulate the cells’ metabolism.[futurity.org] Calcidiol and TOS were negatively correlated (r -0.29; P DISCUSSION: We demonstrate that vitamin D deficiency and secondary increases in PTH are highly prevalent.[ncbi.nlm.nih.gov] Extracellular signal-regulated kinase (Erk 1/2) is a signaling molecule downstream from the 5-HT(2A)R.[ncbi.nlm.nih.gov] RESULTS: Patients with HVD demonstrated significantly higher PTH, increased TOS and OSI, and a higher frequency of calcidiol deficiency than the control participants.[ncbi.nlm.nih.gov]

    Missing: ARG132CYS
  • Polyploidy

    Abstract This study was designed to understand the mechanism and functional implication of the two heterozygous mutations (H391Y and K422R) of human pyruvate kinase M2 isozyme[ncbi.nlm.nih.gov] In order to study the potential role of Aurora-C, we examined the effects of a kinase-deficient (KD) mutant (AurC-KD) in HeLa Tet-Off cells under tetracycline control.[ncbi.nlm.nih.gov] Many small-molecule inhibitors of Aurora kinases are currently undergoing clinical trials. Aurora A kinase is essential for successful mitotic transition.[ncbi.nlm.nih.gov] Specifically, elevated expression of cyclin E and Aurora A in Fbw7-deficient cells is required for drug-induced polyploidy.[ncbi.nlm.nih.gov]

    Missing: ARG132CYS
  • Stress

    The expression of HMGB1 was detected by immunohistochemistry.Cells were pre-incubated with HMGB1 inhibitor ethyl pyruvate (EP) ,then detected the expression pattern of autophagic[ncbi.nlm.nih.gov] HSCT represents a curative therapy for patients with MYSM1 deficiency. Copyright 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc.[ncbi.nlm.nih.gov] RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease.[ncbi.nlm.nih.gov] Nelfinavir was also found to increase the expression of the mammalian target of rapamycin (mTOR) inhibitor AMP-activated protein kinase (AMPK) and inhibited the panobinostat-activated[ncbi.nlm.nih.gov]

    Missing: ARG132CYS

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