Literature DB >> 23024466

Organic acidurias: an updated review.

Kannan Vaidyanathan1, M P Narayanan, D M Vasudevan.   

Abstract

Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail.

Entities:  

Keywords:  Isovaleric aciduria; Maple syrup urine disease; Methylmalonic aciduria; Organic acidurias; Propionic aciduria; Tandem mass spectrometry

Year:  2011        PMID： 23024466      PMCID： PMC3210240          DOI： 10.1007/s12291-011-0134-2

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


  45 in total

1.  Metabolic anomalies detected during a systematic biochemical screening of mentally retarded cases.

Authors:  B S Rao; M N Subhash; H S Narayanan
Journal:  Indian J Med Res       Date:  1977-02       Impact factor: 2.375

2.  Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population.

Authors:  Dindagur Nagaraja; Sopanahalli Narasimhamurthy Mamatha; Tanima De; Rita Christopher
Journal:  Clin Biochem       Date:  2009-12-21       Impact factor: 3.281

3.  Prevalence of selected disorders of inborn errors of metabolism in suspected cases at a tertiary care hospital in Karachi.

Authors:  Hema Satwani; Jamal Raza; Junji Hanai; Shosuke Nomachi
Journal:  J Pak Med Assoc       Date:  2009-12       Impact factor: 0.781

4.  A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children.

Authors:  R A Chalmers; R W Watts; A M Lawson
Journal:  Ann Clin Biochem       Date:  1977-05       Impact factor: 2.057

5.  A study on the nature of genetic metabolic practice at a major paediatric referral centre.

Authors:  H C Glass; A Feigenbaum; J T R Clarke
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 6.  Inborn errors of metabolism (IEM) -- an Indian perspective.

Authors:  N B Kumta
Journal:  Indian J Pediatr       Date:  2005-04       Impact factor: 1.967

7.  Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.

Authors:  Daisuke Hori; Yuki Hasegawa; Masahiko Kimura; Yanling Yang; Iswar C Verma; Seiji Yamaguchi
Journal:  Brain Dev       Date:  2005-01       Impact factor: 1.961

8.  Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.

Authors:  Moacir Wajner; Daniella de Moura Coelho; Rafaela Ingrassia; Anderson Büker de Oliveira; Estela Natacha Brandt Busanello; Kimiyo Raymond; Ricardo Flores Pires; Carolina Fischinger Moura de Souza; Roberto Giugliani; Carmen Regla Vargas
Journal:  Clin Chim Acta       Date:  2008-11-01       Impact factor: 3.786

9.  Inborn errors of metabolism: Review and data from a tertiary care center.

Authors:  Ananth N Rao; J Kavitha; Minakshi Koch; V Suresh Kumar
Journal:  Indian J Clin Biochem       Date:  2009-09-16

10.  Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.

Authors:  L S Han; J Ye; W J Qiu; X L Gao; Y Wang; X F Gu
Journal:  J Inherit Metab Dis       Date:  2007-03-08       Impact factor: 4.982
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  12 in total

Review 1.  Laboratory diagnostic approaches in metabolic disorders.

Authors:  Ruben Bonilla Guerrero; Denise Salazar; Pranoot Tanpaiboon
Journal:  Ann Transl Med       Date:  2018-12

2.  Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?

Authors:  Muntaj Shaik; Kruthika-Vinod T P; Mahesh Kamate; Vedamurthy A B
Journal:  Indian J Pediatr       Date:  2019-07-13       Impact factor: 1.967

3.  A feedback loop engaging propionate catabolism intermediates controls mitochondrial morphology.

Authors:  Junxiang Zhou; Mei Duan; Xin Wang; Fengxia Zhang; Hejiang Zhou; Tengfei Ma; Qiuyuan Yin; Jie Zhang; Fei Tian; Guodong Wang; Chonglin Yang
Journal:  Nat Cell Biol       Date:  2022-04-13       Impact factor: 28.213

4.  Metabolic Disorders and Anesthesia.

Authors:  Cindy Yeoh; Howard Teng; Jacob Jackson; Lee Hingula; Takeshi Irie; Aron Legler; Corrine Levine; Iris Chu; Casey Chai; Luis Tollinche
Journal:  Curr Anesthesiol Rep       Date:  2019-07-12

5.  Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants.

Authors:  Navdeep Saini; Ashwini Malhotra; Sanjay Chhabra; Sunny Chhabra
Journal:  Indian J Crit Care Med       Date:  2015-03

6.  3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.

Authors:  Craig D Spergel; Mariya Milko; Christopher Edwards; Jeff P Steinhoff
Journal:  Cardiol Res       Date:  2014-10-06

7.  Use of single solvent thin layer chromatography to diagnose different organic acidurias.

Authors:  Prajna P Shetty; Prince Jacob; Revathi P Shenoy; K Nalini
Journal:  Indian J Med Res       Date:  2021-07       Impact factor: 2.375

8.  Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.

Authors:  Seema Pavaman Sindgikar; Krithika Damodar Shenoy; Nutan Kamath; Rathika Shenoy
Journal:  J Clin Diagn Res       Date:  2017-09-01

Review 9.  A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish.

Authors:  Maximilian Breuer; Shunmoogum A Patten
Journal:  Biomolecules       Date:  2020-09-22

10.  1H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies.

Authors:  Ninna Pulido; Johana M Guevara-Morales; Alexander Rodriguez-López; Álvaro Pulido; Jhon Díaz; Ru Angelie Edrada-Ebel; Olga Y Echeverri-Peña
Journal:  Metabolites       Date:  2021-12-20
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