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45 Possible Causes for Hyperalaninemia, Lactic Acidosis

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

  • Pyruvate Carboxylase Deficiency

    A trial on a high-fat diet worsened the clinical condition and intensified the ketoacidosis and hyperalaninemia.[ncbi.nlm.nih.gov] Two cases of congenital lactic acidosis associated with pyruvate carboxylase deficiency are described.[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]

  • 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] Abstract 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]

  • Glycogen Storage Disease Type 1

    In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia.[themedicalbiochemistrypage.org] The patient presented at 9 months of age with severe lactic acidosis and hypoglycaemia.[ncbi.nlm.nih.gov] Other features include lactic acidosis, hyperlipidemia, hyperuricemia, and hypoglycemic seizures.[xpertdox.com]

  • Thiamine Deficiency

    The authors report a case of severe lactic acidosis in a 3-year-old boy, after 20 days of total parenteral nutrition without vitamin supplementation.[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] 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]

  • MERRF Syndrome

    […] dementia, tremo r, bradykinesia, retinopathy, optic atrophy, ophthalmoplegia Constitutional: exercise intolerance, growth failure, microcephaly, cachexia, lac tic acidosis, hyperalaninemia[slideshare.net] acidosis.[ncbi.nlm.nih.gov] Among them, action myoclonus was seen in five; short stature, muscle weakness, and mental retardation in four; lactic acidosis, hearing impairment, and ataxia in two; and[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Defect Type 14

    Laboratory findings of lactic acidosis or acidemia and hyperalaninemia (elevated levels of alanine in the blood) can also suggest Leigh syndrome.[en.wikipedia.org] The combination of hyperlactatemia and acidosis is called lactic acidosis and although there is no universal agreement for definition of lactic acidosis, the most widely used[acutecaretesting.org] Impairment of oxidative phosphorylation often, but not always, causes lactic acidosis, particularly affecting the CNS, retina, and muscle.[msdmanuals.com]

  • Glycogen Storage Disease Type 6

    In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia.[themedicalbiochemistrypage.org] In less common forms of the disease, symptoms (particularly hypoglycemia and hepatomegaly) may be severe and patients may even develop metabolic (lactic) acidosis after meals[symptoma.com] Lactic acid and uric acid levels may be normal. However, lactic acidosis may occur during fasting. [3] Diagnosis [ edit ] This section is empty.[en.wikipedia.org]

  • Gluconeogenesis Disorder

    In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia.[themedicalbiochemistrypage.org] Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis).[icdlist.com] The juvenile form presents with lactic acidosis, alopecia, intermittent ataxia; seizures; and an erythematous rash.[icd10data.com]

  • Glycogen Storage Disease Type 0

    acidosis; (4) any associated hyperketosis or hypoketosis; and (5) any associated liver failure or cirrhosis.The differential diagnosis also includes ketotic hypoglycemia.[en.wikipedia.org] Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia.[orpha.net] Lactic acidosis inhibits urinary excretion of urates (hyperuricemia). Glucagon stimulation doesn’t improve hypoglycemia but rather leads to lactic acidosis.[epomedicine.com]

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