Isovaleric Acidemia

Common Name(s)

Isovaleric Acidemia, Isovaleryl-CoA dehydrogenase deficiency, Acidemia, Isovaleric

Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat.  Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Isovaleric Acidemia" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 18 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Isovaleric Acidemia" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 18 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Isovaleric Acidemia" returned 18 free, full-text research articles on human participants. First 3 results:

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.
 

Author(s): Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert, Regina Ensenauer

Journal:

 

Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining ...

Last Updated: 5 Mar 2012

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Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.
 

Author(s): Regina Ensenauer, Ralph Fingerhut, Esther M Maier, Roman Polanetz, Bernhard Olgemöller, Wulf Röschinger, Ania C Muntau

Journal: Clin. Chem.. 2011 Apr;57(4):623-6.

 

Electrospray ionization-tandem mass spectrometry (ESI-MS/MS) has been used in the Bavarian newborn screening (NBS) program since 1999. The use of ESI-MS/MS has led to the inclusion of isovaleric acidemia (IVA) into NBS. We retrospectively evaluated data on more than 1.6 million newborns ...

Last Updated: 29 Mar 2011

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Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia.
 

Author(s): Du Toit Loots, Elardus Erasmus, Lodewyk J Mienie

Journal: Clin. Chem.. 2005 Aug;51(8):1510-2.

 

Last Updated: 25 Jul 2005

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Isovaleric Acidemia" returned 1 free, full-text review articles on human participants. First 3 results:

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
 

Author(s): Jerry Vockley, Regina Ensenauer

Journal: Am J Med Genet C Semin Med Genet. 2006 May;142C(2):95-103.

 

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized ...

Last Updated: 24 Apr 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
 

Status: Recruiting

Condition Summary: Urea Cycle Disorders; Organic Acidemias

 

Last Updated: 18 Jun 2012

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