Create issue ticket

88 Possible Causes for Hyperalaninemia, Lactic Acidosis

  • Pyruvate Carboxylase Deficiency

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

  • 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] A child with lactic acidosis, severe mental and developmental retardation, and proximal renal tubular acidosis is presented.[ncbi.nlm.nih.gov] […] 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]

  • 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[en.wikipedia.org] 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] Therefore, DCA therapy may be useful in treatment of chronic congenital lactic acidosis if this treatment is started sufficiently early.[ncbi.nlm.nih.gov]

  • Thiamine Deficiency

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

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

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

  • 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.[ncbi.nlm.nih.gov] In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia.[themedicalbiochemistrypage.org] Although correction of hypoglycemia and lactic acidosis with nocturnal intragastric feeding and uncooked starch therapy improves growth failure, mean height of the patients[ncbi.nlm.nih.gov]

  • 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] Shoshin beriberi is characterized by hypotension, tachycardia, and lactic acidosis and is mainly encountered in non-alcoholic patients in Asian countries, although it has[ncbi.nlm.nih.gov] acidosis.[jdrntruhs.org]

  • 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] […] myopathy - lactic acidosis.[checkorphan.org]

  • 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[ncbi.nlm.nih.gov] […] after introduction of fructose, sucrose, or sorbitol into their diets: metabolic disturbances hypoglycemia lactic acidemia hypophosphatemia hyperuricemia hypermagnesemia hyperalaninemia[invitae.com] (in part due to lactic acidosis).[reference.medscape.com]

  • Hyperalaninemia

    This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine.[semanticscholar.org] 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] 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.[link.springer.com]

Further symptoms

Similar symptoms