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FOCUS ON RESEARCH Previous Volume 356:2671-2673 June 28, 2007 Number 26 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF PDA Full Text Purchase this article Perspective Perspective by Neven, B. Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear Related Article by Neven, B.

A deficiency of mevalonate kinase resulting in mevalonic aciduria was the first inherited defect in cholesterol and nonsterol isoprene biosynthesis to be recognized.¹ Nine other enzyme deficiencies have since been identified in the distal part of the cholesterol biosynthesis pathway. They are associated mainly with skeletal and organ malformations, skin abnormalities, and psychomotor retardation. Recently, two defects in the synthesis of coenzyme Q10 (also called ubiquinone) have been associated with disorders that clinically resemble abnormalities of mitochondrial energy metabolism.

The clinical manifestations of mevalonic aciduria are diverse.² Severely affected patients present from birth with failure to thrive, microcephaly, dysmorphic features, . . . [Full Text of this Article]

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Dr. Haas is a metabolic consultant and Dr. Hoffmann is a professor in the Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital for Pediatric and Adolescent Medicine, Heidelberg, Germany.

Related Letters:

Mevalonate Kinase Deficiency and Autoinflammation
Hager E. J., Gibson K. M.
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N Engl J Med 2007; 357:1871-1872, Nov 1, 2007. Correspondence

This article has been cited by other articles:

• Hager, E. J., Gibson, K. M. (2007). Mevalonate Kinase Deficiency and Autoinflammation. NEJM 357: 1871-1872 [Full Text]