Living with Aminoacylase 1 deficiency
An inherited condition that can cause delayed development and other nervous system problems, though some people have no health problems.
Understanding Aminoacylase 1 deficiency
People typically have delayed mental and motor skills, movement problems, low muscle tone, mild intellectual disability, and seizures. Some people have no health problems from it. A key feature in everyone with it is high levels of modified amino acids (N-acetylated amino acids) in the urine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Low muscle tone (hypotonia)
- Generalized muscle weakness
- Brain dysfunction (encephalopathy)
- Seizures
- Mild intellectual disability
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 ACY1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 rare disease patient organizations for support
- 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 ACY1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acy1d; deficiency of aminoacylase 1; n-acyl-l-amino acid amidohydrolase deficiency; neurological conditions associated with aminoacylase 1 deficiency
Patient organizations
Rare-disease groups that can help
- 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 Aminoacylase 1 deficiency.
Explore research for Aminoacylase 1 deficiency
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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