Living with Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
An inherited condition with episodes of metabolic imbalance and abnormal brain function, usually starting by age 2.
Understanding Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
During an episode, the body's chemical balance is disrupted and brain function is abnormal. Signs include poor feeding, vomiting, weight loss, tiredness, rapid breathing, and seizures. Ammonia and acid levels in the blood are off and blood sugar may be low. Episodes usually first occur by age 2 and may be triggered by long gaps between meals or by illness. Between episodes, children are generally healthy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fast or deep breathing (tachypnea)
- Low energy (lethargy)
- Poor feeding
- Vomiting
- Weight loss
- Seizures during episodes
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 CA5A 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
MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 MitoAction
- 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 CA5A gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ca-va (carbonic anhydrase va) deficiency; ca-va deficiency; ca5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency; carbonic anhydrase 5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency; carbonic anhydrase va deficiency; carbonic anhydrase va deficiency, hyperammonemia due to
Patient organizations
- MitoActionHyperammonemic encephalopathy due to carbonic anhydrase VA deficiency · United States
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