HMG CoA lyase deficiency

How is HMG CoA lyase deficiency inherited?

HMG CoA lyase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (and are referred to as carriers), but they typically do not show signs and symptoms of the condition. When parents who are both carriers of an autosomal recessive condition have a child, there is a 1 in 4 (25%) chance for each child to have the condition, a 1 in 2 (50%) chance for each child to be a carrier like each of the parents, and a 1 in 4 (25%) chance for the child not to have the condition and not be a carrier.

Last updated on 05-01-20

How can I learn about research involving HMG CoA lyase deficiency?

We recommend contacting the following organizations to learn more about related research.

Organic Acidemia Association
P.O. Box 1008
Pinole, CA 94564
Telephone: 510-672-2476
Fax: 866-539-4060
E-mail: carolbarton@oaanews.org
Web site: http://www.oaanews.org

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Telephone: 0800 652 3181
E-mail: info.svcs@climb.org.uk
Web site: http://www.climb.org.uk/

You may also be interested in the following research resources:

The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Check this site often for updates.

The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the “Terms Search” box. Then click “Submit Query.”

Last updated on 05-01-20

Is it possible for an individual with HMG CoA lyase deficiency to have a child with the same condition?

It is possible for an individual with an autosomal recessive condition to have a child with the same condition; if an individual has the condition and the other parent is a carrier for the same condition, there would be a 1 in 2 (50% chance) for each child to have the condition and a 1 in 2 (50%) chance for the child to be a carrier (but not have the condition). However, in the case of HMG CoA lyase deficiency, it would be highly unlikely for an adult to unknowingly have it and not experience the very severe, specific signs and symptoms that typically first occur in infancy.

We suggest that you talk to your doctor about your concerns. If appropriate, they may recommend a referral to a genetics professional.

Last updated on 05-01-20

Newborn Screening

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: FOD (Fatty Oxidation Disorder) Family Support Group P.O. Box 54
Okemos, MI, 48805-0054, United States
Phone: +1-517-381-1940 [8am - 8pm EST every day] Fax : +1-866-290-5206 Email: deb@fodsupport.org Url: https://fodsupport.org/
Name: Organic Acidemia Association 9040 Duluth Street
Golden Valley, MN, 55427, United States
Phone: 763-559-1797 Fax : 866-539-4060 Email: mkstagni@gmail.com Url: http://www.oaanews.org/
Name: Genetic Metabolic Dietitians International P.O. Box 1462
Hillsborough, NC, 27278, United States
Email: info@gdmi.org Url: http://www.gmdi.org/

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