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Article

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

Journal of molecular neuroscience : MN - 1 Aug 2023

Elaraby Nesma M, Galal Eman Reda, Abdel-Hamid Mohamed, Elbendary Hasnaa M, Elbadry Mohamed, Mekkawy Mona K, Ashaat Neveen A, Mounir Samir M, Ashaat Engy A

Abstract excerpt

Lysosomal acid lipase (LAL) is a necessary enzyme for the hydrolysis of both triglycerides (TGs) and cholesteryl esters (CEs) in the lysosome. Deficiency of this enzyme encoded by the lipase A (LIPA) gene leads to LAL deficiency (LAL-D). A severe disease subtype of LAL-D is known as Wolman disease (WD), present with diarrhea, hepatosplenomegaly, and adrenal calcification. Untreated patients do not survive more...

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PMID: 37470904
DOI: 10.1007/s12031-023-02139-6
PMCID: PMC10517033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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