Isovaleric acidemia

Jump to: navigation, search

WikiDoc Resources for Isovaleric acidemia

Articles

Most recent articles on Isovaleric acidemia

Most cited articles on Isovaleric acidemia

Review articles on Isovaleric acidemia

Articles on Isovaleric acidemia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Isovaleric acidemia

Images of Isovaleric acidemia

Photos of Isovaleric acidemia

Podcasts & MP3s on Isovaleric acidemia

Videos on Isovaleric acidemia

Evidence Based Medicine

Cochrane Collaboration on Isovaleric acidemia

Bandolier on Isovaleric acidemia

TRIP on Isovaleric acidemia

Clinical Trials

Ongoing Trials on Isovaleric acidemia at Clinical Trials.gov

Trial results on Isovaleric acidemia

Clinical Trials on Isovaleric acidemia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Isovaleric acidemia

NICE Guidance on Isovaleric acidemia

NHS PRODIGY Guidance

FDA on Isovaleric acidemia

CDC on Isovaleric acidemia

Books

Books on Isovaleric acidemia

News

Isovaleric acidemia in the news

Be alerted to news on Isovaleric acidemia

News trends on Isovaleric acidemia

Commentary

Blogs on Isovaleric acidemia

Definitions

Definitions of Isovaleric acidemia

Patient Resources / Community

Patient resources on Isovaleric acidemia

Discussion groups on Isovaleric acidemia

Patient Handouts on Isovaleric acidemia

Directions to Hospitals Treating Isovaleric acidemia

Risk calculators and risk factors for Isovaleric acidemia

Healthcare Provider Resources

Symptoms of Isovaleric acidemia

Causes & Risk Factors for Isovaleric acidemia

Diagnostic studies for Isovaleric acidemia

Treatment of Isovaleric acidemia

Continuing Medical Education (CME)

CME Programs on Isovaleric acidemia

International

Isovaleric acidemia en Espanol

Isovaleric acidemia en Francais

Business

Isovaleric acidemia in the Marketplace

Patents on Isovaleric acidemia

Experimental / Informatics

List of terms related to Isovaleric acidemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Isovaleric acidemia
Isovaleric acid structure.png
Isovaleric acid
ICD-10 E71.1
ICD-9 270.3
OMIM 243500
DiseasesDB 29840

Overview

Isovaleric acidemia is a rare genetic 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 leucine. It is closely related to the genetic metabolic disorder Maple syrup urine disease.

Historical Perspective

Classification

Pathophysiology

Genetics

Isovaleric acidemia is estimated to affect at least 1 in 250,000 births in the United States. The condition is inherited in an autosomal recessive pattern, caused by mutations in both copies of the IVD gene.

The enzyme encoded by IVD, isovaleric acid-CoA dehydrogenase (EC 1.3.99.10), plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the third step in processing leucine, an amino acid that is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, a molecule called isovaleric acid and related compounds build up to harmful levels, damaging the brain and nervous system.

Causes

Differentiating Isovaleric acidemia from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.

In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy that can progress to coma. These medical problems are typically severe and can be life-threatening. In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time. They are often triggered by an infection or by eating an increased amount of protein-rich foods.

The urine of newborn can be screened with mass spectrometry for isovaleric acid, allowing for presymptomatic diagnosis.

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

See also

External links

References

  • Budd, M. A. et al. Isovaleric acidemia: clinical feature of a new genetic defect of leucine metabolism. New Eng. J. Med. 277: 321-327, 1967. PMID 4378266
  • National Library of Medicine. Genetics Home Reference: Isovaleric acidemia



Linked-in.jpg