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Lysosomal Acid Lipase Deficiency: Therapeutic Options.
Gregory M Pastores1, Derralynn A Hughes2
1Department of Medicine (Genetics)/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital and University College Dublin, Dublin, Ireland.
Drug Design, Development and Therapy
|February 28, 2020
Summary
Lysosomal acid lipase (LAL) deficiency causes severe liver dysfunction and dyslipidemia due to lipid accumulation. Enzyme replacement therapy with sebelipase alfa shows improved outcomes and survival for patients with this rare metabolic disorder.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Lysosomal acid lipase (LAL) deficiency is an inherited metabolic disorder with severe (Wolman disease) and attenuated (Cholesterol ester storage disease) forms.
- It results from autosomal recessive inheritance and is characterized by hepatic dysfunction and dyslipidemia due to cholesteryl ester and triglyceride accumulation.
Purpose of the Study:
- To review the diagnosis and therapeutic options for Lysosomal acid lipase (LAL) deficiency.
- To highlight the efficacy of sebelipase alfa as a novel enzyme replacement therapy.
Main Methods:
- Diagnosis relies on measuring LAL enzyme activity and genetic analysis.
- Clinical trials evaluated the efficacy and safety of sebelipase alfa.
Main Results:
- Sebelipase alfa demonstrated improvements in disease-relevant markers and clinical benefit.
- Increased survival was observed in patients with severe LAL deficiency treated with sebelipase alfa.
Conclusions:
- LAL deficiency requires timely diagnosis and management, with options ranging from lifestyle changes to enzyme replacement.
- Sebelipase alfa offers a promising therapeutic advance, improving clinical outcomes and survival for LAL deficiency patients.
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