Disturbance of lipid homeostasis in lysosomal lipase deficiency pathomechanism, diagnosis and treatment / Zaburzenie homeostazy lipidowej w deficycie lizosomalnej lipazy patomechanizm, diagnostyka i leczenie.
Postepy Biochem
; 67(3): 231-235, 2021 09 30.
Article
em Pl
| MEDLINE
| ID: mdl-34894393
ABSTRACT
Lysosomal acid lipase (LAL) plays a key role in lipid metabolism through the hydrolysis of cholesteryl esters and triglycerides in lysosomes. LAL deficiency is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. In the case of LAL deficiency, cholesteryl esters and triglycerides accumulate within the lysosomes. The up-regulation of endogenous cholesterol production, increased synthesis of apolipoprotein B (ApoB) and increased production of very-low-density lipoprotein cholesterol (VLDL-C) is observed. The diagnosis is easy due to the currently available method of testing the enzyme activity in a dry blood spot. Molecular analysis is necessary to verify the clinical and biochemical diagnosis and to analyze the genotype-phenotype correlation. Sebelipase alfa is a recombinant human lysosomal lipase intended for use in enzyme replacement therapy in patients with LAL deficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Wolman
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Pl
Revista:
Postepy Biochem
Ano de publicação:
2021
Tipo de documento:
Article