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506 Possible Causes for Deficiency, Muscle, Phosphofructokinase

  • Esophageal Carcinoma

    Deficiency of IL-18 inhibited the IFN-γ production by CD8 T cells and natural killer (NK) cells.[] In another patient with squamous cell carcinoma of the esophagus and synchronous skeletal muscle metastases, muscle metastases were subsequently shown to be related to second[] TE13 were cultured under hypoxia environment, and the protein, mRNA and activity levels of hypoxia inducible factor-1 alpha (HIF-1α), glucose transporter 1, hexokinase-II, phosphofructokinase[]

  • Vitamin B6 Deficiency

    Dietary deficiency of vitamin B6 may be more predominant in developing countries, where there are high incidence rates of chronic malnutrition.[] RESULTS: Deficiency resulted in elevation in liver iron concentration and reduction in muscle iron concentration.[] Five glycolytic enzymes (hexokinase, phosphoglucose isomerase, phosphofructokinase, aldolase, and pyruvate kinase), two pentose phosphate pathway enzymes (glucose-6-phosphate[]

  • Myotonia Congenita

    Abstract Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase.[] Abstract We have investigated the muscle biopsies of 8 patients with myotonia congenita.[] Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology 1998;50:296-298. [ Links ] 10.[]

  • Fructose

    Abstract Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder of gluconeogenesis.[] As all necessary enzymes of these pathways have now been functionally detected in muscle, a contribution of muscle to EGP during fasting via both GGL as well as GNG is suggested[] FBPase exhibits the hysteretic and dissociative properties associated with regulatory enzymes, and many of the factors which effect FBPase have inverse effects on phosphofructokinase[]

  • Pyruvate Kinase Deficiency

    Although deficiency of pyruvate kinase also develops in hepatocytes, these cells possess the ability to produce the enzyme in sufficient concentrations to overcome the deficiency[] The muscle PKM gene directs the synthesis of two isoforms of muscle PK termed PK-M1 and PK-M2.[] Severe deficiencies of hexokinase (MIM 235700), glucosephosphate isomerase (GPI) (MIM 172400), phosphofructokinase (PFK) (MIM 171850), aldolase (MIM 103850), triosephosphate[]

  • Pyrimidine-5-Nucleotidase Deficiency

    Abstract Using recently established ICSH recommended methods, red cell pyruvate kinases (PK) of 20 patients with PK deficiency were characterized and 7 new PK variants were[] "Nucleotidase and its relation to the deamination of nucleotides in the heart and the muscles".[] CTP and UTP inhibited fructose-6-phosphate competitively for phosphofructokinase and phosphoenolpyruvate competitively for pyruvate kinase.[]

  • Neonatal Seizures

    Rarely, phosphofructokinase deficiency manifests in infancy as congenital myopathy and arthrogryposis with fatal outcome.[] 'Myo-' refers to muscle. In this type of seizure, a muscle or a group of muscles move in a jerk like manner, sometimes for less than a second.[] (2) Inborn Errors of Metabolism (ex, amino acid and organic acid disorders, hyperammonemias) can also lead to these derangements and subsequent seizures. (3) Pyridoxine deficiency[]

  • Fructose-1,6-Diphosphatase Deficiency

    Fructose-1,6-diphosphatase deficiency is a genetic autosomal recessive disorder of gluconeogenesis.[] The data provide evidence for a specific muscle enzyme deficiency in a patient with atypical central core disease.[] Fructose bisphosphatase does the opposite job to phosphofructokinase, and both these enzymes only work in one direction. more...[]

  • Muscle Spasm

    The course was progressive and led to malnutrition. Four patients died from 5 to 18 years after onset.[] Muscle knots are abnormal areas within the muscle, which cause pain. The medical term for the muscle knots is myofascial trigger points.[] They include deficiencies of myophosphorylase (McArdle's disease), phosphorylase b kinase, phosphofructokinase, phosphoglycerate kinase, and lactate dehydrogenase.[]

  • Adenosine Monophosphate Deaminase Deficiency

    Adenosine monophosphate deaminase deficiency type 1 , also called myoadenylate deaminase deficiency (MADD), is a recessive genetic metabolic disorder that affects approximately[] […] deficiency myopathy - Muscle adenylate deaminase deficiency - Muscle adenosine monophosphate deaminase deficiency (disorder) - Muscle adenosine monophosphate deaminase deficiency[] Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deaminase.[]

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