Overview
Infantile neurovisceral acid sphingomyelinase deficiency — also known as Niemann-Pick disease type A (NPA) or acid sphingomyelinase deficiency type A — is a rare inherited condition in which the body cannot properly break down a fatty substance called sphingomyelin. This happens because an enzyme called acid sphingomyelinase does not work correctly. Without this enzyme, sphingomyelin builds up inside cells throughout the body, especially in the liver, spleen, lungs, and brain. This buildup causes serious damage to these organs over time. Babies with this condition usually appear healthy at birth but begin showing symptoms in the first few months of life. The liver and spleen become very enlarged, making the belly look swollen. The nervous system is severely affected, leading to loss of muscle tone, feeding difficulties, and a gradual loss of developmental skills that the baby had already gained. A cherry-red spot is often visible at the back of the eye during an eye exam, which is a helpful clue for diagnosis. Unfortunately, infantile neurovisceral acid sphingomyelinase deficiency is a very serious condition. Children with this form typically do not survive beyond early childhood. There is currently no cure, and treatment focuses on managing symptoms and supporting quality of life. Research into enzyme replacement therapy and other approaches is ongoing, offering some hope for the future.
Key symptoms:
Enlarged liver and spleen causing a swollen bellyLoss of muscle tone (floppy baby appearance)Feeding difficulties and poor weight gainLoss of previously learned developmental skills (regression)Cherry-red spot visible at the back of the eyeProgressive loss of movement and coordinationDifficulty swallowingRecurrent lung infections or breathing problemsIntellectual declineSeizures in some childrenYellowing of the skin or eyes (jaundice) in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile neurovisceral acid sphingomyelinase deficiency.
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Specialists
View all specialists →No specialists are currently listed for Infantile neurovisceral acid sphingomyelinase deficiency.
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 Infantile neurovisceral acid sphingomyelinase deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 specific mutations were found in our child's SMPD1 gene, and what does that mean for the disease course?,Is our child a candidate for enzyme replacement therapy with olipudase alfa, and what benefits or limitations should we expect?,Are there any clinical trials or research studies our child might be eligible for?,What signs should prompt us to go to the emergency room immediately?,How do we set up palliative care, and when should we start that conversation?,What is the risk for future pregnancies, and what prenatal testing options are available?,What support services — such as home nursing, feeding specialists, or family counseling — are available to us?
Common questions about Infantile neurovisceral acid sphingomyelinase deficiency
What is Infantile neurovisceral acid sphingomyelinase deficiency?
Infantile neurovisceral acid sphingomyelinase deficiency — also known as Niemann-Pick disease type A (NPA) or acid sphingomyelinase deficiency type A — is a rare inherited condition in which the body cannot properly break down a fatty substance called sphingomyelin. This happens because an enzyme called acid sphingomyelinase does not work correctly. Without this enzyme, sphingomyelin builds up inside cells throughout the body, especially in the liver, spleen, lungs, and brain. This buildup causes serious damage to these organs over time. Babies with this condition usually appear healthy at bi
How is Infantile neurovisceral acid sphingomyelinase deficiency inherited?
Infantile neurovisceral acid sphingomyelinase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile neurovisceral acid sphingomyelinase deficiency typically begin?
Typical onset of Infantile neurovisceral acid sphingomyelinase deficiency is infantile. Age of onset can vary across affected individuals.