Living with Hyperlysinemia
An inherited condition with high levels of the amino acid lysine in the blood that often causes no symptoms.
Understanding Hyperlysinemia
The body cannot break lysine down well, so it builds up. Signs vary widely, even within a family. Features reported include short height, speech and language delays, intellectual disability, behavior differences, muscle stiffness, and seizures. Some researchers suggest that as many as half of people have no symptoms. It is hard to know if features are caused by the condition itself. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Intellectual disability
- Seizures
- Short height
- Short attention span
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 genetic specialists.
- 3Consider genetic testing
Changes in AASS 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
- 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 AASS gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: elevated blood lysine; hyperlysinemia (disease); hyperlysinemia type i; hyperlysinemias; lysine alpha-ketoglutarate reductase 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 Hyperlysinemia.
Explore research for Hyperlysinemia
Explore actively recruiting Hyperlysinemia studies with HealthSpark.
Find actively recruiting studies for Hyperlysinemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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