Literature DB >> 24381430

Biochemical basis of heterogeneity in acute presentations of propionic acidemia.

Seema Pavaman Sindgikar1, Suchetha Rao2, Rathika D Shenoy1, Nutan Kamath2.   

Abstract

Propionic acidemia (PA), an uncommon organic acidemia has varied clinical and metabolic presentation causing difficulty and delay in the diagnosis. We report a case of PA in an infant who presented with failure to thrive, acute encephalopathy due to severe hyperammonemia without acidosis and fungal sepsis. The biochemical basis of severe hyperammonemia is discussed.

Entities:  

Keywords:  Acute encephalopathy; Candida sepsis; Hyperammonemia; Ketoacidosis; Neutropenia

Year:  2012        PMID： 24381430      PMCID： PMC3547454          DOI： 10.1007/s12291-012-0218-7

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


  6 in total

Review 1.  Chronic management and health supervision of individuals with propionic acidemia.

Authors:  V Reid Sutton; Kimberly A Chapman; Andrea L Gropman; Erin MacLeod; Kathy Stagni; Marshall L Summar; Keiko Ueda; Nicholas Ah Mew; Jill Franks; Eddie Island; Dietrich Matern; Loren Peña; Brittany Smith; Tina Urv; Charles Venditti; Anupam Chakarapani
Journal:  Mol Genet Metab       Date:  2011-09-10       Impact factor: 4.797

Review 2.  Natural history of propionic acidemia.

Authors:  Loren Pena; Jill Franks; Kimberly A Chapman; Andrea Gropman; Nicholas Ah Mew; Anupam Chakrapani; Eddie Island; Erin MacLeod; Dietrich Matern; Brittany Smith; Kathy Stagni; V Reid Sutton; Keiko Ueda; Tiina Urv; Charles Venditti; Gregory M Enns; Marshall L Summar
Journal:  Mol Genet Metab       Date:  2011-09-22       Impact factor: 4.797

3.  Neonatal onset propionic acidemia without acidosis: a case report.

Authors:  Ipek Akman; Sebahat Imamoğlu; Mübeccel Demirkol; Harika Alpay; Eren Ozek
Journal:  Turk J Pediatr       Date:  2002 Oct-Dec       Impact factor: 0.552

4.  Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

Authors:  Heather R Filipowicz; Sharon L Ernst; Carrie L Ashurst; Marzia Pasquali; Nicola Longo
Journal:  Mol Genet Metab       Date:  2006-01-10       Impact factor: 4.797

5.  Infectious complications of propionic acidemia in Saudia Arabia.

Authors:  M Al Essa; Z Rahbeeni; S Jumaah; S Joshi; E Al Jishi; M S Rashed; M Al Amoudi; P T Ozand
Journal:  Clin Genet       Date:  1998-07       Impact factor: 4.438

6.  Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).

Authors:  H Henriquez; A el Din; P T Ozand; S B Subramanyam; S I al Gain
Journal:  Brain Dev       Date:  1994-11       Impact factor: 1.961
  6 in total
  2 in total

Review 1.  Toxic-metabolic Risk Factors in Pediatric Pancreatitis: Recommendations for Diagnosis, Management, and Future Research.

Authors:  Sohail Z Husain; Veronique Morinville; John Pohl; Maisam Abu-El-Haija; Melena D Bellin; Steve Freedman; Peter Hegyi; Melvin B Heyman; Ryan Himes; Chee Y Ooi; Sarah J Schwarzenberg; Danielle Usatin; Aliye Uc
Journal:  J Pediatr Gastroenterol Nutr       Date:  2016-04       Impact factor: 2.839

2.  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
  2 in total

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