Living with 3-Hydroxyisobutyric aciduria
A rare metabolic condition in which the body cannot break down certain amino acids, with developmental delay and brain differences.
Understanding 3-Hydroxyisobutyric aciduria
This leads to a toxic buildup of organic acids in the blood, tissues, and urine. Signs include developmental delay, distinct facial features, and brain differences. The exact cause is not well understood. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low sex hormones (hypogonadotropic hypogonadism)
- Long space between nose and mouth (philtrum)
- Small ears (microtia)
- Triangular face
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
- 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
Some cases may be caused by changes in the ALDH6A1 gene and inherited in an autosomal recessive way. The exact cause is not well understood.
Patient organizations
- Organic Acidemia Association3-Hydroxyisobutyric aciduria · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-Hydroxyisobutyric aciduria.
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