Living with Deficiency of hydroxymethylglutaryl-CoA lyase
An uncommon inherited condition in which the body cannot process leucine or make ketones, causing episodes of illness.
Understanding Deficiency of hydroxymethylglutaryl-CoA lyase
Ketones are compounds used for energy during fasting. Signs usually appear within the first year of life. Episodes include vomiting, diarrhea, dehydration, extreme tiredness, and low muscle tone. During an episode blood sugar can drop and the blood can become too acidic. Episodes are often triggered by fasting or illness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Episodes of vomiting
- Extreme tiredness (lethargy)
- Low muscle tone (hypotonia)
- Enlarged liver
- Poor appetite
- Fast or deep breathing
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in HMGCL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HMGCL gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-coa lyase deficiency; 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency; 3-oh 3-methyl glutaric aciduria; defect in leucine metabolism; hmg-coa lyase deficiency
Patient organizations
- Organic Acidemia AssociationDeficiency of hydroxymethylglutaryl-CoA lyase · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupDeficiency of hydroxymethylglutaryl-CoA lyase · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of hydroxymethylglutaryl-CoA lyase.
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