Living with Fatty acyl-CoA reductase 1 deficiency
A rare genetic condition with severe intellectual disability, cataracts, early seizures and small head size, starting in infancy.
Understanding Fatty acyl-CoA reductase 1 deficiency
It causes severe intellectual disability with cataracts in the eyes from early life, seizures, a small head size, developmental delay, slow growth, and short height. Stiff arms and legs (spastic quadriparesis) occur. Some people have distinct facial features. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Early cataracts
- Seizures
- Small head size that becomes more noticeable
- Short stature and slow growth
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 seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in FAR1 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
Epilepsy Foundation 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 FAR1 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: far1 deficiency; fatty acyl-coa reductase 1 disorder; fatty acyl-coa reductase 1 disorder or fatty acyl-coa reductase 1 deficiency; fatty acyl-coenzyme a reductase 1 deficiency; peroxisomal fatty acyl-coa reductase 1 disorder; pfcrd
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Fatty acyl-CoA reductase 1 deficiency.
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