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Hyperalaninemia

Hyper Beta Alaninemia


Presentation

  • However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways.[books.google.com]
  • ORPHA:309147 Synonym(s): Hyperalaninemia Prevalence: Inheritance: - Age of onset: Neonatal ICD-10: E79.8 OMIM: 237400 UMLS: C0268630 MeSH: - GARD: 10267 MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Case presentation: Herein we report three new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the 4 years of age with recurrent hypoglycemic seizures.[degruyter.com]
  • Hyper-β-AiBuria is a benign “metabolic polymorphism” that is present in human populations (5 to 10 percent in Caucasians and 40 to 95 percent in Asian populations). R-β-AiB is the form that is excreted.[ommbid.mhmedical.com]
Malaise
  • Homepage Rare diseases Search Search for a rare disease Hyper-beta-alaninemia Disease definition A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise,[orpha.net]
Purpura
  • Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Case 3-2019: A 70-Year-Old Woman with Fever, Headache, and Progressive Encephalopathy Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura Randomized[nejm.org]
  • […] neuromuscular junction disease Immune-mediated necrotizing myopathy Immune-mediated protracted diarrhea of infancy Immune-mediated rippling muscle disease Immune myopathy with myocyte necrosis Immune pancytopenia Immune thrombocytopenia Immune thrombocytopenic purpura[orpha.net]
Suggestibility
  • Showing 1-10 of 15 references ttyperalaniemia with pyruvicemia in a patient suggestive of Leigh's encephalomyelopathy Biochemical studies and therapy in subacute neerotizing eneephalomyelopathy[semanticscholar.org]
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • These findings suggest that the metabolic lesion in the patient with hyper-alaninemia and pyruvicemia is a defective activity of pyruvate carboxylase of the liver, leading to an impaired gluconeogenesis.[jstage.jst.go.jp]
  • These laboratory studies suggested an inborn error in gluconeogenesis. Further investigation revealed a low level of hepatic pyruvate carboxylase activity.[ncbi.nlm.nih.gov]
  • M...Slavik J 1983 6 Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. ( 817914 ) Maesaka H...Tada K 1976 7 Hyperalaninemia with pyruvicemia in a patient suggestive[malacards.org]
Convulsions
  • Associated inhibition of GABA transaminase and displacement of GABA from central-nervous-system binding sites would produce GABAuria and convulsions.[unboundmedicine.com]
  • Signs and symptoms of hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.[rarediseases.info.nih.gov]
Lethargy
  • Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy , and encephalopathy .Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment[monarchinitiative.org]
  • Signs and symptoms of hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.[rarediseases.info.nih.gov]
Somnolence
  • TY - JOUR T1 - Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.[unboundmedicine.com]
  • Diseases related to Hyper-Beta-Alaninemia via text searches within MalaCards or GeneCards Suite gene sharing: Symptoms via clinical synopsis from OMIM: 57 Growth: failure to thrive Resp: neonatal respiratory distress Neuro: seizures somnolence Lab: hyper-beta-alaninemia[malacards.org]
  • Abstract Hyper-beta-alaninemia was found in a somnolent, convulsing infant. Hyper-beta-aminoaciduria (beta-ala, betaAIB and taurine) was also observed, varying directly with plasma beta-alanine concentration.[ncbi.nlm.nih.gov]
  • During a 2-year period of clinical observation, there were no further episodes of seizures or somnolence in our patient while she received oral pyridoxine therapy. 1994 by the American Academy of Neurology AAN Members: Sign in with your AAN member credentials[n.neurology.org]

Workup

  • Besides sepsis workup we advise :- A. Routine Biochemical 1. Blood sugar 2. Sr. Calcium 3. Sr. Phosphorus 4. Sr. Magnesium 5. Sr. Electrolytes 6. Sr. Bicarbonate 7. Arterial blood gases 8. Bun / Creat 9. Sr. Uric acid 10. S.G.O.T. / S.G.P.T. 11. Sr.[jalananil.tripod.com]
Alanine Increased
  • Beta alanine increases your stamina and reduces the amount of lactic acid present in your muscles during a tough workout. It can help you combat the fatigue that can accompany exercise, especially if you are dieting.[yeswellness.com]

Treatment

  • However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways.[books.google.com]
  • Treatment with oral pyridoxine was demonstrated to be helpful in one case. [1] Last updated: 6/5/2013[rarediseases.info.nih.gov]

Prognosis

  • Consultations Evaluation of the patient by an expert in metabolic and genetic disease is necessary to confirm the diagnosis, guide appropriate treatment, and determine prognosis. Enzyme testing and DNA confirmation are available.[emedicine.medscape.com]
  • In the past the prognosis for type 1 glycogen storage disease patients was poor.[themedicalbiochemistrypage.org]

Etiology

  • .: Subacute necrotizing encephalomyelopathy: a consideration of clinical feature and etiology. Develop. med. Child. Neurol. 14 , 87 (1972) Google Scholar Pincus, J. H., Cooper, J. R.: Subacute necrotizing encephalomyelopathy. Arch.[link.springer.com]
  • The etiology and pathogenetic mechanism is still unknown, but recent reports have suggested that it might be associated with an inborn error of metabolism.[jstage.jst.go.jp]
  • The mission of AsktheGeneticist â œis to answer questions about genetic concepts, and the etiology, treatment, research, testing, and predisposition to genetic disorders.⠝ AsktheGeneticist has a genetic genealogy section , but itâ s pretty sparse.[thegeneticgenealogist.com]
  • Etiology The gene that encodes pyruvate carboxylase (PC) has been localized to chromosome band 11q13.4-q13.5. PC deficiency is inherited from parents by an autosomal recessive inheritance pattern.[emedicine.medscape.com]

Epidemiology

  • The investigators examined 9 novel mutations of the PC gene in 5 unrelated patients, 2 of whom had type A and 3 of whom had type B PC deficiency. [4, 5] Epidemiology Pyruvate carboxylase (PC) deficiency is a rare disorder, with an approximate incidence[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Pyruvate carboxylase (PC) deficiency affects metabolism in several major ways.[emedicine.medscape.com]

Prevention

  • Objective The purpose of this study is to probe the effects of aerobic exercise on plasma homocysteine(Hcy) level and the capability of anti-oxidation in hyperhomocysteinemia rats, consequently to explore the theoretical basis for the prevention against[dictall.com]
  • The principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury.[books.google.com]
  • Legal Disclaimer Statements regarding dietary supplements have not been evaluated by the FDA and are not intended to diagnose, treat, cure, or prevent any disease or health condition.[amazon.com]
  • Jong CJ, Azuma J, Schaffer S (2012) Mechanism underlying the antioxidant activity of taurine: prevention of mitochondrial oxidant production. Amino Acids 42(6):2223–2232 CrossRef PubMed Google Scholar 19.[link.springer.com]

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