Overview
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement is an extremely rare and severe genetic condition caused by mutations in the ITPA gene. This gene normally produces an enzyme called inosine triphosphate pyrophosphatase (ITPase), which helps clean up harmful molecules that can damage cells. When this enzyme does not work properly, toxic substances build up in the body and cause widespread damage, especially to the brain, eyes, and heart. Babies with this condition typically appear normal at birth but soon develop serious problems. These include seizures that are difficult to control (often described as epileptic encephalopathy), cataracts (clouding of the lenses in the eyes), and heart problems such as cardiomyopathy (weakening of the heart muscle) or other structural heart issues. Affected infants may also show poor muscle tone, feeding difficulties, developmental delays, and a small head size (microcephaly). The brain may show abnormal development or progressive deterioration on imaging. Unfortunately, this condition is currently considered lethal in infancy, meaning most affected children do not survive beyond the first year or two of life. There is no cure at this time, and treatment focuses on managing symptoms such as controlling seizures, supporting feeding, and addressing heart complications. Care is provided by a team of specialists including neurologists, cardiologists, ophthalmologists, and geneticists.
Also known as:
Key symptoms:
Severe seizures that are hard to controlCataracts (cloudy lenses in the eyes)Heart muscle weakness (cardiomyopathy)Poor muscle tone (floppiness)Feeding difficultiesFailure to thrive and poor weight gainSmall head size (microcephaly)Severe developmental delayAbnormal brain development seen on MRILack of normal developmental milestonesBreathing difficultiesIrritability and excessive cryingProgressive neurological decline
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement.
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Specialists
View all specialists →No specialists are currently listed for ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected course of this condition for my child specifically?,What seizure medications are available, and what should I do if a seizure lasts longer than usual?,How will my child's heart be monitored, and what signs of heart problems should I watch for?,Is palliative care available, and how can it help our family?,Are there any clinical trials or research studies we could participate in?,What genetic counseling is available for our family regarding future pregnancies?,What support services are available for our family, including emotional and financial support?
Common questions about ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
What is ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement?
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement is an extremely rare and severe genetic condition caused by mutations in the ITPA gene. This gene normally produces an enzyme called inosine triphosphate pyrophosphatase (ITPase), which helps clean up harmful molecules that can damage cells. When this enzyme does not work properly, toxic substances build up in the body and cause widespread damage, especially to the brain, eyes, and heart. Babies with this condition typically appear normal at birth but soon develop serious problems. These include seizures
How is ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement inherited?
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement typically begin?
Typical onset of ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement is neonatal. Age of onset can vary across affected individuals.