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168 Possible Causes for PGK, Deficiency

  • Phosphoglycerate Kinase Deficiency

    […] enzyme (PGK North Carolina).[ncbi.nlm.nih.gov] The disappearance of fluorescence indicates PGK activity in the sample, while the contrary could be due to PGK deficiency.[ncbi.nlm.nih.gov] Synonyms: Phosphoglycerokinase deficiency, PGK deficiency, PGK1 deficiency, Haemolytic anaemia with PGK Deficiency, Phosphoglycerate kinase deficiency is a hereditary metabolic[patient.info]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    Synonyms: Phosphoglycerokinase deficiency, PGK deficiency, PGK1 deficiency, Haemolytic anaemia with PGK Deficiency, Phosphoglycerate kinase deficiency is a hereditary metabolic[patient.info] PGK is a ubiquitous enzyme expressed in all tissues except the testes.[orpha.net] Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.[biomedsearch.com]

  • Myoglobinuria

    PGK activity was decreased in tissues from the patient's mother but normal in the father.[ncbi.nlm.nih.gov] CPT deficiency seems to be a common cause of exercise-induced myoglobinuria.[ncbi.nlm.nih.gov] Enzyme characteristics of PGK from our patient (PGK Hamamatsu) using hemolysate demonstrated that it had normal Michaelis constants (Km), normal thermal stability, and a normal[ncbi.nlm.nih.gov]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    All of these enzyme deficiencies are autosomal except for PGK, which is X-linked.[ommbid.mhmedical.com] Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe.[malacards.org] Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI.[genome.jp]

  • Pyruvate Kinase Deficiency

    All of these enzyme deficiencies are autosomal except for PGK, which is X-linked.[ommbid.mhmedical.com] Pyruvate kinase deficiency is caused by mutations in the PKLR gene.[ghr.nlm.nih.gov] Two isozymes of PGK exist: PGK-1, ubiquitously expressed in all somatic cells, and PGK-2, expressed only in spermatozoa. 63 PGK-1 is a 48-kDa monomer consisting of 417 amino[bloodjournal.org]

  • Cystic Fibrosis

    The Neo R consists of a Neo R cDNA driven by the PGK promoter and is flanked by loxP sites.[ncbi.nlm.nih.gov] P. aeruginosa clearance was diminished in transgenic TNF-alpha- and iNOS-deficient mice.[ncbi.nlm.nih.gov] This leads to problems with digestion (e.g. diarrhea, fatty stools) and to malnutrition. Children do not grow properly and do not gain sufficient weight.[aoporphan.com]

  • Phosphorylase Kinase Deficiency

    X-linked recessive accounts for nearly 75% of cases of PGK deficiency.[mda.org.au] Phosphorylase kinase deficiency is a type of glycogen storage disorder with two main subtypes, namely the liver and muscle subtypes.[symptoma.com] . • All muscle glycogenoses are inherited as autosomal recessive traits, excepting 2 variants of phosphorylase b kinase (PHK) deficiency and phosphoglycerate kinase (PGK)[medlink.com]

  • 3-Phosphoglycerate Dehydrogenase Deficiency

    For this reason, a series of fluoro-phosphonate inhibitors have been tested for their potency in detailed inhibition kinetic experiments with yeast PGK.[ncbi.nlm.nih.gov] SYNOPSIS: we present a novel mild phenotype in patients with 3-PGDH deficiency.[ncbi.nlm.nih.gov] Author information 1 Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba R3E 0W3, Canada. [email protected] Abstract A deficiency[ncbi.nlm.nih.gov]

  • Metabolic Myopathy

    Cognitive deficits are often associated with the adult polyglucosan body disease (APBD) form of branching enzyme deficiency (type IV) and PGK deficiency.[neupsykey.com] Abstract A severe muscle enolase deficiency, with 5% of residual activity, was detected in a 47-year-old man affected with exercise intolerance and myalgias.[ncbi.nlm.nih.gov] Reduction of dopamine agonists during a heat wave may induce a dopamine deficiency syndrome with hyperthermia, rhabdomyolysis and thrombocytopenia.[ncbi.nlm.nih.gov]

  • Hexokinase Deficiency

    All of these enzyme deficiencies are autosomal except for PGK, which is X-linked.[ommbid.mhmedical.com] The clinical presentation of hexokinase deficiency is similar to the presentation of the pyruvate kinase deficiency; however, the anemia is more severe.[symptoma.com] deficiency Hexokinase deficiency hemolytic anemia HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Statements Identifiers Sitelinks Wikibooks (0 entries) edit[wikidata.org]

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