Living with Hydroxykynureninuria
A rare genetic condition in which the body processes the amino acid tryptophan differently, from mild cases to ones affecting the brain.
Understanding Hydroxykynureninuria
Large amounts of certain substances pass into the urine. Effects vary widely. Some people have no symptoms or only mild jaundice and vomiting, then grow and develop normally. Others have intellectual disability, poor coordination, pellagra (a skin and nutrition condition), brain illness with low muscle tone, developmental delay, or deafness from birth. It may begin in newborns or infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Hearing loss from birth
- Brain illness (encephalopathy)
- Headache
- Repetitive movements
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 KYNU 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 KYNU gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: encephalopathy due to hydroxykynureninuria; kynureninase deficiency; xanthurenic aciduria
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 Hydroxykynureninuria.
Explore research for Hydroxykynureninuria
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- 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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