Living with Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
A rare inherited condition in which the body can't turn certain fats into energy, especially when fasting, affecting the liver, muscles, heart, and eyes.
Understanding Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
This matters most during fasting. Signs usually appear in infancy or early childhood, including feeding difficulties, low energy, low blood sugar, weak muscle tone, and liver problems. The retina can be affected, causing vision problems that worsen over time. Later in childhood, there may be muscle pain and loss of sensation in the arms and legs. Illness, fasting, or stress can trigger problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Enlarged liver (hepatomegaly)
- Low muscle tone (hypotonia)
- Global developmental delay
- Sensitivity to light (photophobia)
- Retina changes on an eye test
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, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in HADHA 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, Children's Cardiomyopathy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, Children's Cardiomyopathy Foundation, The Foundation for Peripheral Neuropathy
- 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
It is caused by changes in the HADHA gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase; fatty liver, acute, of pregnancy; hellp syndrome, maternal, of pregnancy; lchad deficiency; lchadd; lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency
Patient organizations
- United Mitochondrial Disease FoundationLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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