Literature DB >> 1193830

Acute neonatal isovaleric acidemia. A report of two cases.

Z Spirer, S Swirsky-Fein, V Zakut, C Legum, N Bogair, R Charles, E Gil-Av.   

Abstract

Two fatal cases of the fulminant type of isovaleric acidemia are described. Attention is drawn to the existence of two forms of the disease, the severe "Newman" type, occurring in the first week of life and the milder "Tanaka" type, with a later onset. The importance of ruling out isovaleric acidemia in any newborn infant with acidosis is emphasized.

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Year:  1975        PMID: 1193830

Source DB:  PubMed          Journal:  Isr J Med Sci        ISSN: 0021-2180


  4 in total

1.  Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.

Authors:  M Duran; F J van Sprang; J G Drewes; L Bruinvis; D Ketting; S K Wadman
Journal:  Eur J Pediatr       Date:  1979-06-28       Impact factor: 3.183

Review 2.  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

3.  Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Authors:  B Dubiel; C Dabrowski; R Wetts; K Tanaka
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808

4.  The response to L-carnitine and glycine therapy in isovaleric acidaemia.

Authors:  C de Sousa; R A Chalmers; T E Stacey; B M Tracey; C M Weaver; D Bradley
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

  4 in total

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