Lysosomal acid lipase (LAL) deficiency causes autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00148 Lysosomal acid lipase deficiency
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00148 Lysosomal acid lipase deficiency
