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49 Possible Causes for Hyperalaninemia

  • Hyperalaninemia

    More Causes of Hyperalaninemia » Causes List for Hyperalaninemia Some possible causes of Hyperalaninemia or similar disorders may include: 3 Carbonic anhydrase VA deficiency[familydiagnosis.com] Genes 8 genes associated with the hyperalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.[amp.pharm.mssm.edu] Abstract A 10-year-old girl with mental retardation, hyperalaninemia and pyruvicemia was described.[jstage.jst.go.jp]

  • Pyruvate Carboxylase Deficiency

    Abstract A 10-year-old girl with mental retardation, hyperalaninemia and pyruvicemia was described.[jstage.jst.go.jp] A trial on a high-fat diet worsened the clinical condition and intensified the ketoacidosis and hyperalaninemia.[ncbi.nlm.nih.gov] A child with intermittent lactic acidosis, profound mental and motor retardation, hypoglycemia, hyperpyruvic acidemia, and hyperalaninemia was the first to be reported with[medlink.com]

  • Glycogen Storage Disease Type 0

    Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia.[orpha.net]

  • Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

    […] clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia[orpha.net] […] seizures Dysmetria Postnatal growth retardation Proximal muscle weakness Abnormality of the periventricular white matter Fatigue Skeletal muscle atrophy Rapidly progressive Hyperalaninemia[mendelian.co]

  • Congenital Lactic Acidosis

    Res. 10 , 60–66 (1976) Google Scholar Tada, K., Yoshida, T., Konno, T., Wada, Y., Yokoyama, Y., Arakawa, T.: Hyperalaninemia with pyruvicemia. Tohoku J. exp.[springerlink.com] .: Hyperalaninemia, hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver: Treatment with thiamine and lipoic acid. Europ. J.[springerlink.com] .: Hyperalaninemia with pyruvicemia in a patient suggestive of Leighs' encephalomyelopathy. Tohoku J. exp. Med. 109 , 13–18 (1973) Google Scholar Tang, T. T., Good, T.[springerlink.com]

  • Cardiac Beriberi

    Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia and hyperalaninuria. Pediat 1969;43:1025–1034. Google Scholar 5. Selye H.[link.springer.com]

  • Tryptophanemia

    Hyperalaninemia Severe retardation, siezures, myoclonus, in childhood.[cmdg.org]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia.[themedicalbiochemistrypage.org]

  • Leigh's Disease

    Laboratory findings of lactic acidosis or acidemia and hyperalaninemia (elevated levels of alanine in the blood) can also suggest Leigh syndrome.[en.wikipedia.org] […] pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene,2011 and Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency,2010 ) and hyperalaninemia[flipper.diff.org]

  • Cataract - Ataxia - Deafness

    Hyperalaninemia Severe retardation, siezures, myoclonus, in childhood.[cmdg.org]

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