3-Hydroxy-3-methylglutaric aciduria

Common Name(s)

3-Hydroxy-3-methylglutaric aciduria, HMG CoA lyase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase, 3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)

HMG CoA lyase deficiency is an inherited disorder in which the body cannot process leucine or make ketones. Ketones are used for energy during periods of fasting. This condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress. Mutations in the HMGCL gene cause HMG-CoA lyase deficiency, and this condition is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "3-Hydroxy-3-methylglutaric aciduria" 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 "3-Hydroxy-3-methylglutaric aciduria" 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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General Support Organizations

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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 "3-Hydroxy-3-methylglutaric aciduria" returned 5 free, full-text research articles on human participants. First 3 results:

[Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].
 

Author(s): Yan-Yan Ma, Jin-Qing Song, Tong-Fei Wu, Yu-Peng Liu, Jiang-Xi Xiao, Yu-Wu Jiang, Yan-Ling Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2011 May;13(5):392-5.

 

3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy ...

Last Updated: 17 May 2011

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Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.
 

Author(s): Beatriz Puisac, María Arnedo, Cesar H Casale, María Pilar Ribate, Tomás Castiella, Feliciano J Ramos, Antonia Ribes, Celia Pérez-Cerdá, Nuria Casals, Fausto G Hegardt, Juan Pié

Journal: J. Inherit. Metab. Dis.. 2010 Aug;33(4):405-10.

 

3-Hydroxy-3-methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3-hydroxy-3-methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final step of leucine degradation and ketogenesis. Acute symptoms include vomiting, seizures ...

Last Updated: 14 Jul 2010

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A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.
 

Author(s): N Casals, J Pié, C H Casale, N Zapater, A Ribes, M Castro-Gago, S Rodriguez-Segade, R J Wanders, F G Hegardt

Journal: J. Lipid Res.. 1997 Nov;38(11):2303-13.

 

A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the mRNAs showed that the gene was transcribed into three different mRNAs. One showed ...

Last Updated: 30 Jan 1998

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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 "3-Hydroxy-3-methylglutaric aciduria" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.