Objectives: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder due to deficiency of LAL, the enzyme that hydrolyzes cholesteryl esters and triglycerides. Deficiency of this enzyme leads to lipid accumulation in many organs including liver, spleen, and intestines. Infants with this disease present during the first few months with diarrhea, severe failure to thrive, hepatosplenomegaly, and rapidly progressive liver dysfunction leading to early death.
Recently, enzyme replacement therapy with sebalipase alpha became available, however, nutrition remains a challenge and gastrointestinal symptoms commonly persist despite treatment.
Here we present successful treatment of LAL deficiency with the restoration of nutritional status.
Methods: 2.5 months old infant girl presented to our hospital with severe FTT. She was diagnosed with LAL deficiency based on symptoms and decreased enzyme activity on dried blood spot.
Our treatment involved a combination of enzyme replacement therapy (Sebalipase alpha) with specific dietary therapy. This included total parenteral nutrition (TPN), restricted lipids and specific low fat hypoallergenic enteral formula (hydrolyzed, 2% fat formula). We used triglycerides values as a marker for lipid metabolism status and to guide dietary modifications.
Results: Enzyme replacement therapy combined with restricting diet at the initial treatment period helped to restore normal growth and development of an infant with this disease. Her gastrointestinal symptoms had resolved.
The patient is now one year old with weight at the 50th percentile (9.820 kg), successfully weaned off of TPN and IV albumin. She is on full oral intake of Monogen formula and low-fat complementary food. She has no vomiting, nor diarrhea. Her psychomotor development is normal. Her lab values normalized.
Conclusion: Here we demonstrate that LAL deficiency has a good prognosis with enzyme replacement therapy combined with nutritional restriction in the initial treatment period and tight follow up of lipids levels as a guide for dietary progression.
