Living with Saccharopinuria
A rare inherited condition where the body has trouble breaking down the amino acid lysine; some people have nerve-related symptoms.
Understanding Saccharopinuria
It leads to high lysine in the blood and spinal fluid and to saccharopine in the urine. Some people have seizures, stiff legs, mild developmental delay, or behavior difficulties. GARD notes that current findings suggest no direct link between high lysine alone and nerve symptoms. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Growth differences
- Short stature
- Seizures (in some people)
- Mild developmental delay (in some people)
- Behavior difficulties (in some people)
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
It is caused by changes in the AASS gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hyperlysinemia type ii; hyperlysinemia, type ii; saccharopine dehydrogenase 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 Saccharopinuria.
Explore research for Saccharopinuria
Explore actively recruiting Saccharopinuria studies with HealthSpark.
Find actively recruiting studies for Saccharopinuria 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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