A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis

descriptionPublicationkeyboard_double_arrow_right Article , Part of book or chapter of book 01 Jan 1988 English Publisher:WileyJournal:Journal of Inherited Metabolic Disease, volume 11, pages 233-236 (issn: 0141-8955, eissn: 1573-2665,

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Authors: J B, de Klerk; M, Duran; L, Dorland; H A, Brouwers; L, Bruinvis; D, Ketting;

doi: 10.1007/bf01804244 , 10.1007/978-94-009-1259-5_40

pmid: 3141709

A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis

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Abstract

Mevalonic aciduria is an inborn error in cholesterol biosynthesis, due to a deficiency of mevalonate kinase (EC 2.7.1.36), which has recently been discovered. So far two patients have been reported (Berger et al., 1985; Hoffmann et al., 1986).

Related Organizations

Boston Children's Hospital
United States
Wilhelmina Children's Hospital
Netherlands

Keywords

Leukocytosis, Infant, Newborn, Mevalonic Acid, Anemia, Thrombocytopenia, Splenomegaly, Humans, Female, Metabolism, Inborn Errors, Hepatomegaly

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