Literature DB >> 477679

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

M Duran, F J van Sprang, J G Drewes, L Bruinvis, D Ketting, S K Wadman.   

Abstract

Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.

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Year:  1979        PMID： 477679     DOI： 10.1007/bf00538944

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  14 in total

1.  (2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids.

Authors:  J P Kamerling; M Duran; L Bruinvis; D Ketting; S K Wadman; C J de Groot; F A Hommes
Journal:  Clin Chim Acta       Date:  1977-06-15       Impact factor: 3.786

2.  Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.

Authors:  K Tanaka; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1976-07       Impact factor: 14.808

3.  Isovaleric acidaemia in two South African children.

Authors:  C Malan; A C Neethling; B C Shanley; D Gompertz; K Bartlett; E B Schraader
Journal:  S Afr Med J       Date:  1977-06-25

4.  Isovaleric acidemia: results of family study and dietary treatment.

Authors:  H L Levy; A M Erickson; I T Lott; D J Kurtz
Journal:  Pediatrics       Date:  1973-07       Impact factor: 7.124

5.  [A case of isovaleric acidemia].

Authors:  P Guibaud; P Divry; Y Dubois; C Collombel; F Larbre
Journal:  Arch Fr Pediatr       Date:  1973 Jun-Jul

6.  Acute neonatal isovaleric acidemia. A report of two cases.

Authors:  Z Spirer; S Swirsky-Fein; V Zakut; C Legum; N Bogair; R Charles; E Gil-Av
Journal:  Isr J Med Sci       Date:  1975-10

7.  Therapeutic effects of glycine in isovaleric acidemia.

Authors:  I Krieger; K Tanaka
Journal:  Pediatr Res       Date:  1976-01       Impact factor: 3.756

8.  [Isovaleric acidemia. Study and treatment in 3 brothers].

Authors:  J M Saudubray; M Sorin; E Depondt; C Herouin; C Charpentier; J L Pousset
Journal:  Arch Fr Pediatr       Date:  1976-10

9.  Isovalericacidemia: a case report.

Authors:  P A Winokur; K Vashistha; R Seshamani
Journal:  Pediatrics       Date:  1978-06       Impact factor: 7.124

10.  Isolation and identification of aliphatic short-chain acylcarnitines from beef heart: possible role for carnitine in branched-chain amino acid metabolism.

Authors:  L L Bieber; Y R Choi
Journal:  Proc Natl Acad Sci U S A       Date:  1977-07       Impact factor: 11.205
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  8 in total

Review 1.  Lactulose, disaccharides and colonic flora. Clinical consequences.

Authors:  M R Clausen; P B Mortensen
Journal:  Drugs       Date:  1997-06       Impact factor: 9.546

2.  Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Authors:  María L Couce; Luís Aldamiz-Echevarría; María A Bueno; Patricia Barros; Amaya Belanger-Quintana; Javier Blasco; María-Teresa García-Silva; Ana M Márquez-Armenteros; Isidro Vitoria; Inmaculada Vives; Rosa Navarrete; Ana Fernández-Marmiesse; Belén Pérez; Celia Pérez-Cerdá
Journal:  J Hum Genet       Date:  2016-12-01       Impact factor: 3.172

3.  Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Authors:  M Dercksen; M Duran; L Ijlst; L J Mienie; C J Reinecke; J P N Ruiter; H R Waterham; R J A Wanders
Journal:  J Inherit Metab Dis       Date:  2012-02-17       Impact factor: 4.982

4.  Symptoms and signs in organic acidurias.

Authors:  N J Brandt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.

Authors:  M Duran; L Bruinvis; D Ketting; S K Wadman; B C van Pelt; A M Batenburg-Plenter
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

6.  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

7.  Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Authors:  Sarah C Grünert; Udo Wendel; Martin Lindner; Michael Leichsenring; K Otfried Schwab; Jerry Vockley; Willy Lehnert; Regina Ensenauer
Journal:  Orphanet J Rare Dis       Date:  2012-01-25       Impact factor: 4.123

8.  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
  8 in total

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