Isobutyryl-coenzyme A dehydrogenase deficiency

Revision as of 16:34, 9 August 2012 by WikiBot (talk | contribs) (Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +))
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search
Isobutyryl-coenzyme A dehydrogenase deficiency
Valine
OMIM 604773
DiseasesDB 34225

WikiDoc Resources for Isobutyryl-coenzyme A dehydrogenase deficiency

Articles

Most recent articles on Isobutyryl-coenzyme A dehydrogenase deficiency

Most cited articles on Isobutyryl-coenzyme A dehydrogenase deficiency

Review articles on Isobutyryl-coenzyme A dehydrogenase deficiency

Articles on Isobutyryl-coenzyme A dehydrogenase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Isobutyryl-coenzyme A dehydrogenase deficiency

Images of Isobutyryl-coenzyme A dehydrogenase deficiency

Photos of Isobutyryl-coenzyme A dehydrogenase deficiency

Podcasts & MP3s on Isobutyryl-coenzyme A dehydrogenase deficiency

Videos on Isobutyryl-coenzyme A dehydrogenase deficiency

Evidence Based Medicine

Cochrane Collaboration on Isobutyryl-coenzyme A dehydrogenase deficiency

Bandolier on Isobutyryl-coenzyme A dehydrogenase deficiency

TRIP on Isobutyryl-coenzyme A dehydrogenase deficiency

Clinical Trials

Ongoing Trials on Isobutyryl-coenzyme A dehydrogenase deficiency at Clinical Trials.gov

Trial results on Isobutyryl-coenzyme A dehydrogenase deficiency

Clinical Trials on Isobutyryl-coenzyme A dehydrogenase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Isobutyryl-coenzyme A dehydrogenase deficiency

NICE Guidance on Isobutyryl-coenzyme A dehydrogenase deficiency

NHS PRODIGY Guidance

FDA on Isobutyryl-coenzyme A dehydrogenase deficiency

CDC on Isobutyryl-coenzyme A dehydrogenase deficiency

Books

Books on Isobutyryl-coenzyme A dehydrogenase deficiency

News

Isobutyryl-coenzyme A dehydrogenase deficiency in the news

Be alerted to news on Isobutyryl-coenzyme A dehydrogenase deficiency

News trends on Isobutyryl-coenzyme A dehydrogenase deficiency

Commentary

Blogs on Isobutyryl-coenzyme A dehydrogenase deficiency

Definitions

Definitions of Isobutyryl-coenzyme A dehydrogenase deficiency

Patient Resources / Community

Patient resources on Isobutyryl-coenzyme A dehydrogenase deficiency

Discussion groups on Isobutyryl-coenzyme A dehydrogenase deficiency

Patient Handouts on Isobutyryl-coenzyme A dehydrogenase deficiency

Directions to Hospitals Treating Isobutyryl-coenzyme A dehydrogenase deficiency

Risk calculators and risk factors for Isobutyryl-coenzyme A dehydrogenase deficiency

Healthcare Provider Resources

Symptoms of Isobutyryl-coenzyme A dehydrogenase deficiency

Causes & Risk Factors for Isobutyryl-coenzyme A dehydrogenase deficiency

Diagnostic studies for Isobutyryl-coenzyme A dehydrogenase deficiency

Treatment of Isobutyryl-coenzyme A dehydrogenase deficiency

Continuing Medical Education (CME)

CME Programs on Isobutyryl-coenzyme A dehydrogenase deficiency

International

Isobutyryl-coenzyme A dehydrogenase deficiency en Espanol

Isobutyryl-coenzyme A dehydrogenase deficiency en Francais

Business

Isobutyryl-coenzyme A dehydrogenase deficiency in the Marketplace

Patents on Isobutyryl-coenzyme A dehydrogenase deficiency

Experimental / Informatics

List of terms related to Isobutyryl-coenzyme A dehydrogenase deficiency


Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly.

People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a build up of valine in the urine, a symptom called valinuria.

Diagnosis

Babies with this disorder are usually healthy at birth. The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy).

Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.

Genetics

Isobutyryl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.

Defects in the ACAD8 gene cause isobutyryl-coenzyme A dehydrogenase deficiency. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.

This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are needed to be born with the disorder. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder.

See also

External links

Template:WH Template:WS