Literature DB >> 8765634

Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy.

K C Mehta1, K Zsolway, K C Osterhoudt, I Krantz, F M Henretig, P Kaplan.   

Abstract

Chronic, intermittent isovaleric acidemia was undiagnosed in a boy with an increased anion gap metabolic acidosis until the boy was 5 years of age. This case emphasizes the importance of maintaining a high index of suspicion for inborn errors of metabolism in patients with metabolic acidosis, even in late childhood.

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Year:  1996        PMID： 8765634     DOI： 10.1016/s0022-3476(96)70261-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  2 in total

Review 1.  Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Authors:  Jerry Vockley; Regina Ensenauer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

2.  Dietary practices in isovaleric acidemia: A European survey.

Authors:  A Pinto; A Daly; S Evans; M F Almeida; M Assoun; A Belanger-Quintana; S Bernabei; S Bollhalder; D Cassiman; H Champion; H Chan; J Dalmau; F de Boer; C de Laet; A de Meyer; A Desloovere; A Dianin; M Dixon; K Dokoupil; S Dubois; F Eyskens; A Faria; I Fasan; E Favre; F Feillet; A Fekete; G Gallo; C Gingell; J Gribben; K Kaalund-Hansen; N Horst; C Jankowski; R Janssen-Regelink; I Jones; C Jouault; G E Kahrs; I L Kok; A Kowalik; C Laguerre; S Le Verge; R Lilje; C Maddalon; D Mayr; U Meyer; A Micciche; M Robert; J C Rocha; H Rogozinski; C Rohde; K Ross; I Saruggia; A Schlune; K Singleton; E Sjoqvist; L H Stolen; A Terry; C Timmer; L Tomlinson; A Tooke; K Vande Kerckhove; E van Dam; T van den Hurk; L van der Ploeg; M van Driessche; M van Rijn; A van Teeffelen-Heithoff; A van Wegberg; C Vasconcelos; H Vestergaard; I Vitoria; D Webster; F J White; L White; H Zweers; A MacDonald
Journal:  Mol Genet Metab Rep       Date:  2017-02-27
  2 in total

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