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)

3-Hydroxy-3-methylglutaric aciduria (HMG) is a rare genetic condition resulting from a mutation (error) in a person’s DNA. HMG is an organic acid condition because it may lead to harmful amounts of certain organic acids and toxins in the body. Protein in the food we eat is broken down into amino acids, or “building blocks”. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia and then harmless products our body can get rid of. If one of the enzymes needed is missing or not working correctly, the amino acid is not broken all the way down and organic acids builds up in our system. Although organic acids are only mild acids, both organic acids and ammonia can damage our bodies if too much builds up. In this the enzyme, HMG CoA lyase, is unable to break down the amino acid, leucine. HMG CoA lyase also makes ketone bodies from fat, which help store energy. People with HMG are unable to make ketone bodies and properly store energy.

HMG is an autosomal recessive condition. Children typically show signs between 3 months and 2 years of age. Symptoms include poor appetite, tiredness, irritability, weak muscle tone, fever, vomiting, diarrhea, low blood sugar, or behavior changes. Treatment usually includes supplements and a specific diet. Early diagnosis has shown to be effective in improving the health of individuals with HMG. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups also are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "3-Hydroxy-3-methylglutaric aciduria" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 18 Jun 2015

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FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

Last Updated: 1 Jun 2015

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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 Jun 2015

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General Support Organizations

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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.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 18 Jun 2015

View Details
FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

https://fodsupport.org/

Last Updated: 1 Jun 2015

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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 Jun 2015

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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.