Living with Seizures-intellectual disability due to hydroxylysinuria syndrome
A rare inherited metabolic condition starting in infancy with seizures, severe intellectual disability, and movement problems.
Understanding Seizures-intellectual disability due to hydroxylysinuria syndrome
It leads to global developmental delay, severe intellectual disability, seizures, and movement problems such as tremor and jerks. The body passes too much hydroxylysine (an amino acid) in the urine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Seizures with sudden jerks (myoclonic seizures)
- Global developmental delay
- Tremor
- Excess movement (hyperkinesia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene.
Also known as: hydroxylysine high in urine; hydroxylysinuria
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 Seizures-intellectual disability due to hydroxylysinuria syndrome.
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