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Article

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.

American journal of physiology. Endocrinology and metabolism - 1 Aug 2009

Schweiger Martina, Lass Achim, Zimmermann Robert, Eichmann Thomas O, Zechner Rudolf

Abstract excerpt

Neutral lipid storage disease (NLSD) is a group of autosomal recessive disorders characterized by the excessive accumulation of neutral lipids in multiple tissues. Recently, two genes, adipose triglyceride lipase (ATGL/PNPLA2) and comparative gene identification-58 (CGI-58/ABHD5), have been shown to cause NLSD. ATGL specifically hydrolyzes the first fatty acid from triacylglycerols (TG) and CGI-58/ABHD5...

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Topics

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Adipose Tissue and Metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipase

Share to Lipid metabolism and biosynthesis

Share to Lipid Metabolism, Inborn Errors

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Source

Identifiers

PMID: 19401457
DOI: 10.1152/ajpendo.00099.2009

Genes

ABHD5
PNPLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.PMID 19401457Read ↗

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