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 HovnikDescription
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