Living with Adenylosuccinate lyase deficiency
A neurological condition causing delayed development, autistic traits, and seizures, with forms that range from severe to milder.
Understanding Adenylosuccinate lyase deficiency
It leads to delayed mental and movement abilities, autistic traits that affect communication and social interaction, and seizures. A key clue for diagnosis is certain chemicals (SAICAr and S-Ado) in body fluids. GARD describes three forms: neonatal, type I (severe), and type II (moderate or mild). It can start from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Severe developmental delay
- Intellectual disability
- Small head size (microcephaly)
- Low muscle tone (hypotonia)
- Absent or very limited speech
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ADSL 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); 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 Simons Searchlight 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
Changes in the ADSL gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: adenylosuccinase deficiency; adenylosuccinate deficiency; adsl deficiency; adsld; asase - adenylosuccinate lyase deficiency; deficiency of adenylosuccinate lyase
Patient organizations
- Simons SearchlightAdenylosuccinate lyase deficiency · United States
- Organization for Autism ResearchAdenylosuccinate lyase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Adenylosuccinate lyase deficiency.
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