Isobutyryl deficiency

In this chapter, we will show you how to locate peer-reviewed references and studies on isobutyryl-CoA dehydrogenase deficiency. For those interested in basic information about isobutyryl-CoA dehydrogenase deficiency, we begin with a condition summary published by the National Library of Medicine. 

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 isobutyryl-CoA 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 isobutyryl-CoA dehydrogenase deficiency is provided.2... 

The Genetics Home Reference has recently published the following summary for isobutyryl-CoA dehydrogenase deficiency ... 

Isobutyryl-coenzyme A (CoA) dehydrogenase deficiency (IBD deficiency) is a rare disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, a building block of proteins. 

What Genes Are Related to Isobutyryl-CoA Dehydrogenase Deficiency ... 

Mutations in the ACAD8 (http fghr.nlm.nih.gov/gene=acad8) gene cause isobutyryl-coenzyme A dehydrogenase deficiency. 

You may find the following resources about isobutyryl-coenzyme A dehydrogenase deficiency helpful. These materials are written for the general public. 

These sources were used to develop the Genetics Home Reference condition summary on isobutyryl-coenzyme A dehydrogenase deficiency. 

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002 Sep-Oct 77(l-2) 68-79. PubMed citation... 

Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency an unrecognized defect in human valine metabohsm. Mol Genet Metab. 1998 Dec 65(4) 264-71. PubMed citation... 

Sass JO, Sander S, Zschocke J. Isobutyryl-CoA dehydrogenase deficiency isobutyrylglydnuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis. 2004 27(6) 741-5. PubMed citation... 

A summary of the gene related to isobutyryl-CoA dehydrogenase deficiency is provided below ... 

Isobutyryl-Coenzyme a Dehydrogenase Deficiency - Caused by Mutations in the ACAD8 Gene... 

Isobutyryl-CoA dehydrogenase deficiency isobutyrylglycinuria and ACAD8 gene mutations in two infants. 

Isolated isobutyryl-CoA dehydrogenase deficiency an unrecognized defect in human valine metabolism. 

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