Overview
Lysosomal acid phosphatase deficiency is a very rare inherited metabolic disorder. It happens when the body does not make enough of an enzyme called lysosomal acid phosphatase. Enzymes are proteins that help the body break down certain substances. When this enzyme is missing or not working properly, harmful materials can build up inside cells, especially in the liver, kidneys, and nervous system. This buildup damages tissues and organs over time. This condition is also sometimes referred to as acid phosphatase deficiency or LAP deficiency. It belongs to a group of diseases called lysosomal storage disorders, where the tiny compartments inside cells (called lysosomes) cannot properly clean up waste products. The disease typically appears in newborns or very young infants and can be very serious. Symptoms may include liver problems, nervous system damage, and failure to thrive. Because this condition is so rare, treatment options are very limited and mostly focus on managing symptoms. There is currently no approved cure or enzyme replacement therapy specifically for this disease. Families dealing with this diagnosis need close support from a team of specialists.
Key symptoms:
Liver enlargement (hepatomegaly)Kidney problemsFailure to grow and gain weight normallyNervous system damage (neurological deterioration)Muscle weakness or poor muscle toneVomitingFeeding difficulties in infancyYellowing of the skin or eyes (jaundice)SeizuresDevelopmental delays
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 Lysosomal acid phosphatase deficiency.
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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 Lysosomal acid phosphatase deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 gene change does my child have, and what does that mean for their prognosis?,Are there any clinical trials or research studies we could join?,What signs should prompt me to take my child to the emergency room?,What specialists should be part of my child's care team?,Are there any dietary changes or supplements that could help?,Should other family members be tested for this condition?,What support services are available to help our family?
Common questions about Lysosomal acid phosphatase deficiency
What is Lysosomal acid phosphatase deficiency?
Lysosomal acid phosphatase deficiency is a very rare inherited metabolic disorder. It happens when the body does not make enough of an enzyme called lysosomal acid phosphatase. Enzymes are proteins that help the body break down certain substances. When this enzyme is missing or not working properly, harmful materials can build up inside cells, especially in the liver, kidneys, and nervous system. This buildup damages tissues and organs over time. This condition is also sometimes referred to as acid phosphatase deficiency or LAP deficiency. It belongs to a group of diseases called lysosomal st
How is Lysosomal acid phosphatase deficiency inherited?
Lysosomal acid phosphatase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lysosomal acid phosphatase deficiency typically begin?
Typical onset of Lysosomal acid phosphatase deficiency is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Lysosomal acid phosphatase deficiency?
1 specialists and care centers treating Lysosomal acid phosphatase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.