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88 Possible Causes for Hyperalaninemia, Lactic Acidosis

  • Pyruvate Carboxylase Deficiency

    Abstract A 10-year-old girl with mental retardation, hyperalaninemia and pyruvicemia was described.[] Two cases of congenital lactic acidosis associated with pyruvate carboxylase deficiency are described.[] A trial on a high-fat diet worsened the clinical condition and intensified the ketoacidosis and hyperalaninemia.[]

  • Leigh's Disease

    Laboratory findings of lactic acidosis or acidemia and hyperalaninemia (elevated levels of alanine in the blood) can also suggest Leigh syndrome.[] A child with lactic acidosis, severe mental and developmental retardation, and proximal renal tubular acidosis is presented.[] […] 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[]

  • Congenital Lactic Acidosis

    Congenital lactic acidosis Mitochondrial dna mutations cause this condition [ edit on Wikidata ] Congenital lactic acidosis (CLA) is a rare disease caused by mutations in[] 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.[] Therefore, DCA therapy may be useful in treatment of chronic congenital lactic acidosis if this treatment is started sufficiently early.[]

  • Thiamine Deficiency

    Lactic acidosis is a common metabolic acidosis characterized by increased serum lactate and is usually associated with a decreased blood pH.[] Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria. Pediat 1969;43:1025–1034. Google Scholar 8.[] Type B lactic acidosis is an underrecognized clinical entity that must be distinguished from type A (hypoxic) lactic acidosis.[]

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

    The hallmark features of this disease are hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.[] acidosis Hypoglycemia Proteinuria Liver transaminases normal to slightly increased Recurrent bacterial infections hypoglycemic seizures recurrent infections massive hepatomegaly[] acidosis, hypoglycemia Treatment: Avoidance of fasting, uncooked cornstarch *Gene has been identified, and molecular basis has been elucidated.[]

  • Glycogen Storage Disease

    GSD I should be considered in all young children presenting with hypoglycaemia and lactic acidosis. Presence of neutropenia further confirms GSD Ib.[] In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia.[] Although correction of hypoglycemia and lactic acidosis with nocturnal intragastric feeding and uncooked starch therapy improves growth failure, mean height of the patients[]

  • Cardiac Beriberi

    Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia and hyperalaninuria. Pediat 1969;43:1025–1034. Google Scholar 5. Selye H.[] Shoshin beriberi is characterized by hypotension, tachycardia, and lactic acidosis and is mainly encountered in non-alcoholic patients in Asian countries, although it has[] acidosis.[]

  • 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[] […] seizures Dysmetria Postnatal growth retardation Proximal muscle weakness Abnormality of the periventricular white matter Fatigue Skeletal muscle atrophy Rapidly progressive Hyperalaninemia[] […] myopathy - lactic acidosis.[]

  • Hereditary Fructose Intolerance

    Three aspects of this case expand the published literature on this syndrome: (1) Metabolic acidosis was found to be due to both lactic acidosis and proximal renal tubular[] […] after introduction of fructose, sucrose, or sorbitol into their diets: metabolic disturbances hypoglycemia lactic acidemia hypophosphatemia hyperuricemia hypermagnesemia hyperalaninemia[] (in part due to lactic acidosis).[]

  • Hyperalaninemia

    This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine.[] More Causes of Hyperalaninemia » Causes List for Hyperalaninemia Some possible causes of Hyperalaninemia or similar disorders may include: 3 Carbonic anhydrase VA deficiency[] R.: Thiamine-responsive lactic acidosis in a patient with deficient low-Km pyruvate carboxylase activity in liver. Pediatrics 50 , 702 (1972) Google Scholar Clayton, B.[]

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