Living with 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
A rare inherited metabolic condition with episodes of vomiting, tiredness, and low blood sugar, often during illness or fasting.
Understanding 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
It has been reported in fewer than 20 people. Episodes often happen with stomach illness (gastroenteritis) or fasting. They bring vomiting, extreme tiredness (lethargy), an enlarged liver, and low blood sugar, and rarely coma. People are mostly well between episodes. Early diagnosis helps avoid low blood sugar crises that can lead to permanent brain damage. GARD lists onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Abnormal lab results (metabolism)
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 HMGCS2 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 rare disease patient organizations for support
- 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 HMGCS2 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-methylglutaryl-coa synthase 2 deficiency; hmg-coa synthase deficiency; hmg-coa synthase-2 deficiency; hmgcs2 deficiency; hmgcs2d; mitochondrial hmg-coa synthase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.
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