Living with 3-hydroxyisobutyryl-CoA hydrolase deficiency
A rare metabolic condition that affects the brain and nerves, starting with poor muscle tone, feeding trouble, and seizures.
Understanding 3-hydroxyisobutyryl-CoA hydrolase deficiency
Early symptoms include poor muscle tone, poor feeding, seizures, and a gradual loss of skills. It can look like Leigh syndrome. Blood tests show high lactic acid, and brain imaging shows changes in a structure called the globi pallidi. GARD lists onset as infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Feeding difficulties
- Seizures
- Infantile spasms
- Involuntary eye movements (nystagmus)
- Motor delay
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in HIBCH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation 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 HIBCH gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent. The body then cannot break down the amino acid valine, and toxic by-products build up.
Also known as: 3-hydroxyisobutryl-coa hydrolase deficiency; beta-hydroxyisobutyryl-coenzyme a deacylase deficiency; deficiency of 3-hydroxyisobutyryl coa hydrolase; deficiency of 3-hydroxyisobutyryl coenzyme a hydrolase; hibch deficiency; methacrylic acid toxicity
Patient organizations
- United Mitochondrial Disease Foundation3-hydroxyisobutyryl-CoA hydrolase deficiency · United States
- MitoAction3-hydroxyisobutyryl-CoA hydrolase deficiency · United States
- Organic Acidemia Association3-hydroxyisobutyryl-CoA hydrolase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-hydroxyisobutyryl-CoA hydrolase deficiency.
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