Literature DB >> 2059255

Long-term L-carnitine treatment in isovaleric acidemia.

E Mayatepek1, T W Kurczynski, C L Hoppel.   

Abstract

A 5-year-old girl with isovaleric acidemia was treated with long-term L-carnitine and no supplemental glycine. Clinical and laboratory data are presented. Following diagnosis and treatment at age 2 years, the frequency of acute exacerbations of metabolic acidosis was reduced and she resumed normal growth and development. L-carnitine supplementation and protein restriction may be sufficient for effective therapy of isovaleric acidemia.

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Year:  1991        PMID： 2059255     DOI： 10.1016/0887-8994(91)90011-9

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  8 in total

1.  Improvement in exercise tolerance in isovaleric acidaemia with L-carnitine therapy.

Authors:  P J Lee; E L Harrison; M G Jones; R A Chalmers; J V Leonard; B J Whipp
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

Review 2.  L-Carnitine.

Authors:  J H Walter
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

Review 3.  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

4.  Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

Authors:  Olivia M D'Annibale; Erik A Koppes; Ahmad N Alodaib; Catherine Kochersperger; Anuradha Karunanidhi; Al-Walid Mohsen; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2021-08-30       Impact factor: 4.204

5.  L-carnitine in inborn errors of metabolism: what is the evidence?

Authors:  J H Walter
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

6.  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

7.  Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study.

Authors:  Yasutsugu Chinen; Sadao Nakamura; Kunihito Tamashiro; Osamu Sakamoto; Kyoko Tashiro; Takahiro Inokuchi; Koichi Nakanishi
Journal:  Mol Genet Metab Rep       Date:  2017-03-17

Review 8.  Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Authors:  Johannes Häberle; Anupam Chakrapani; Nicholas Ah Mew; Nicola Longo
Journal:  Orphanet J Rare Dis       Date:  2018-12-06       Impact factor: 4.123
  8 in total

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