Medium chain acyl dehydrogenase deficiency

Medium chain acyl CoA dehydrogenase (MCAD) deficiency, primary etiology hepatic... [Pg.228]

For readers unfamihar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamihar with medical terminology, a comprehensive glossary is provided. We hope these resources wih prove useful to the widest possible audience seeking information on medium-chain acyl-coenzyme A dehydrogenase deficiency. [Pg.1]

In this chapter, we wiU show you how to locate peer-reviewed references and studies on medium-chain acyl-coenzyme A dehydrogenase deficiency. For those interested in basic information about medium-chain acyl-coenzyme A dehydrogenase deficiency, we begin with a condition summary pubhshed by the National Library of Medicine. [Pg.3]

Genetics Home Reference (GHR) is the National Library of Medicine s Web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions. Here you can find a condition summary on medium-chain acyl-coenzyme A dehydrogenase deficiency that describes the major features of the condition, provides information about the condition s genetic basis, and explains its pattern of inheritance. In addition, a summary of the gene or chromosome related to medium-chain acyl-coenzyme A dehydrogenase deficiency is provided. ... [Pg.3]

The Genetics Home Reference has recently published the following summary for medium-chain acyl-coenzyme A dehydrogenase deficiency ... [Pg.3]

What Is Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ... [Pg.3]

Worldwide, medium-chain acyl-coenzyme A dehydrogenase deficiency is estimated to affect 1 in 5,000 to 17,000 live births. In the United States, the estimated frequency of this disorder is 1 in 15,000 hve births. The condition is more common among individuals of northern European ancestry. [Pg.4]

Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency evaluating the effects on outcome. Eur J Pediatr. 2003 Dec 162 Suppl l S25-8. Epub 2003 Nov 20. Review. PubMed citation... [Pg.6]

Crosse SD, Khoury MJ, Greene CL, Crider KS, PoUitt RJ. The epidemiology of medium chain acyl-Co A dehydrogenase deficiency an update. Genet Med. 2006 Apr 8(4) 205-12. PubMed citation... [Pg.6]

Wang SS, Femhoff PM, Hannon WH, Khoury MJ. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec l(7) 332-9. PubMed citation... [Pg.6]

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency. [Pg.9]

Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines retrospective and prospective studies, and comparison of its accuracy to acylcamitine identification by FAB/mass spectrometry. [Pg.10]

Hyperuricemia in medium-chain acyl-coenzyme A dehydrogenase deficiency. [Pg.12]

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