Living with Adenosine kinase deficiency
A rare inherited metabolic condition affecting the brain and liver, with developmental delay, seizures, and low muscle tone.
Understanding Adenosine kinase deficiency
It is marked by too much of the amino acid methionine in the blood. It can cause brain dysfunction (encephalopathy), severe developmental delay, liver problems, and low muscle tone. Some people also have seizures, low blood sugar, or heart defects. It can range from only nervous system symptoms to many organs being involved.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Seizures
- Low muscle tone (hypotonia)
- Liver problems, such as slowed bile flow (cholestasis)
- Poor weight gain (failure to thrive)
- Larger-than-usual head (macrocephaly)
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 ADK 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 ADK gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: adk deficiency; adk hypermethioninemia; autosomal recessive intellectual disability 8; hypermethioninemia due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to adk (adenosine kinase) 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 Adenosine kinase deficiency.
Explore research for Adenosine kinase deficiency
Explore actively recruiting Adenosine kinase deficiency studies with HealthSpark.
Find actively recruiting studies for Adenosine kinase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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