KANUMA (sebelipase alfa)
METABOLIC ENZYME REPLACEMNT-LYSOSOMAL ACID LIPASE DEFICIENCY·LYSOSOMAL ACID LIPASE DEFICIENCY
ALEXION PHARMAC
Indication
Lysosomal acid lipase deficiency
Lysosomal acid lipase deficiency is a rare, autosomal recessive lysosomal storage disorder caused by pathogenic variants in the *LIPA* gene, leading to a marked decrease or absence of the lysosomal acid lipase enzyme. Read more about Lysosomal acid lipase deficiency
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Coming soonLysosomal acid lipase deficiency is a rare, autosomal recessive lysosomal storage disorder caused by pathogenic variants in the *LIPA* gene, leading to a marked decrease or absence of the lysosomal acid lipase enzyme.
This metabolic defect impairs the intracellular hydrolysis of cholesteryl esters and triglycerides, resulting in progressive lipid accumulation across multiple organs, particularly the liver, spleen, gastrointestinal tract, and vascular endothelium.
The clinical spectrum ranges from a rapidly progressive infantile form characterized by severe hepatosplenomegaly, malabsorption, adrenal calcification, and liver failure, to an attenuated childhood- or adult-onset presentation typically marked by dyslipidemia, hepatomegaly, and premature atherosclerosis, progressive hepatic fibrosis, and cirrhosis.
- nih.gov
Lysosomal acid lipase deficiency is a rare, autosomal recessive lysosomal storage disorder caused by pathogenic variants in the *LIPA* gene, leading to a marked decrease or absence of the lysosomal acid lipase enzyme This metabolic defect impairs the intracellular hydrolysis of cholesteryl esters and triglycerides, resulting in progressive lipid accumulation across multiple organs, particularly the liver, spleen, gastrointestinal tract, and vascular endothelium
- liverfoundation.org
Lysosomal acid lipase deficiency is a rare, autosomal recessive lysosomal storage disorder caused by pathogenic variants in the *LIPA* gene, leading to a marked decrease or absence of the lysosomal acid lipase enzyme This metabolic defect impairs the intracellular hydrolysis of cholesteryl esters and triglycerides, resulting in progressive lipid accumulation across multiple organs, particularly the liver, spleen, gastrointestinal tract, and vascular endothelium The clinical spectrum ranges from ...
- nih.gov
Lysosomal acid lipase deficiency is a rare, autosomal recessive lysosomal storage disorder caused by pathogenic variants in the *LIPA* gene, leading to a marked decrease or absence of the lysosomal acid lipase enzyme This metabolic defect impairs the intracellular hydrolysis of cholesteryl esters and triglycerides, resulting in progressive lipid accumulation across multiple organs, particularly the liver, spleen, gastrointestinal tract, and vascular endothelium The clinical spectrum ranges from ...
- medlineplus.gov
The clinical spectrum ranges from a rapidly progressive infantile form characterized by severe hepatosplenomegaly, malabsorption, adrenal calcification, and liver failure, to an attenuated childhood- or adult-onset presentation typically marked by dyslipidemia, hepatomegaly, and premature atherosclerosis, progressive hepatic fibrosis, and cirrhosis
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