Overview
Pancreatic triacylglycerol lipase deficiency, also known as pancreatic lipase deficiency or congenital pancreatic lipase deficiency, is a rare condition in which the pancreas does not produce enough of a specific enzyme called pancreatic triglyceride lipase (PTL). This enzyme is essential for breaking down fats (triglycerides) from the food you eat so your body can absorb them properly. Without enough of this enzyme, dietary fats pass through the digestive system without being fully digested or absorbed. The main symptom is steatorrhea, which means fatty, greasy, foul-smelling stools. People with this condition may also experience bloating, abdominal discomfort, diarrhea, and over time may develop deficiencies in fat-soluble vitamins (A, D, E, and K) because these vitamins need fat to be absorbed. In children, poor fat absorption can lead to failure to thrive and growth problems. Unlike some other causes of fat malabsorption, this condition is isolated to the lipase enzyme, meaning the rest of the pancreas typically functions normally. Treatment focuses on replacing the missing enzyme. Pancreatic enzyme replacement therapy (PERT) taken with meals can help the body digest and absorb fats more effectively. Dietary adjustments, such as reducing very high-fat meals or supplementing with medium-chain triglycerides (MCTs) that are easier to absorb, may also be recommended. With proper management, most people can lead relatively normal lives, though lifelong enzyme supplementation is usually needed.
Also known as:
Key symptoms:
Greasy, fatty, foul-smelling stools (steatorrhea)DiarrheaBloating and gasAbdominal pain or discomfortPoor weight gain in childrenFailure to thrive in infantsVitamin A deficiency (night blindness, dry skin)Vitamin D deficiency (weak bones)Vitamin E deficiency (nerve problems)Vitamin K deficiency (easy bruising or bleeding)Oily or floating stoolsFatigue from poor nutrition
Clinical phenotype terms (21)— hover any for plain English
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 Pancreatic triacylglycerol lipase deficiency.
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Specialists
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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
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Questions for your doctor
Bring these to your next appointment
- Q1.What dose of pancreatic enzyme replacement therapy does my child (or I) need, and how should it be adjusted?,How often should we check fat-soluble vitamin levels and nutritional status?,Are there specific dietary changes that can help improve fat absorption?,How can we tell if the enzyme replacement therapy is working well enough?,Should other family members be tested for this condition?,What should we do if symptoms return or worsen despite taking enzymes?,Are there any new treatments or clinical trials available for this condition?
Common questions about Pancreatic triacylglycerol lipase deficiency
What is Pancreatic triacylglycerol lipase deficiency?
Pancreatic triacylglycerol lipase deficiency, also known as pancreatic lipase deficiency or congenital pancreatic lipase deficiency, is a rare condition in which the pancreas does not produce enough of a specific enzyme called pancreatic triglyceride lipase (PTL). This enzyme is essential for breaking down fats (triglycerides) from the food you eat so your body can absorb them properly. Without enough of this enzyme, dietary fats pass through the digestive system without being fully digested or absorbed. The main symptom is steatorrhea, which means fatty, greasy, foul-smelling stools. People
How is Pancreatic triacylglycerol lipase deficiency inherited?
Pancreatic triacylglycerol lipase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pancreatic triacylglycerol lipase deficiency typically begin?
Typical onset of Pancreatic triacylglycerol lipase deficiency is infantile. Age of onset can vary across affected individuals.