Clinical characteristics of children with lysosomal acid lipase deficiency

Published: 31 May 2022| Version 1 | DOI: 10.17632/zn7b85hgk6.1
Contributors:
Ursa Sustar,
Urh Groselj,
Katarina Trebusak Podkrajsek,
Matej Mlinaric,
Jernej Kovač,
Martin Thaler,
Ana Drole Torkar,
Ajda Skarkovnik,
Tadej Battelino,
Tinka Hovnik

Description

Lysosomal acid lipase deficiency (LAL-D) is a rare hereditary disorder, caused by pathogenic variant in the LIPA gene. LAL-D is screened as a secondary disorder among other rare dyslipidemias exhibiting with hypercholesterolemia as part of the Slovenian universal familial hypercholesterolemia (FH) screening program. We present clinical and genetical data of 3 children with LAL-D, and data for prevalence estimation in Slovenia.

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Categories

Genetics, Cardiovascular Disease, Orphan Disorder, Dyslipidemia, Pediatric Genetics, Next Generation Sequencing

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