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Article

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

American journal of human genetics - 13 Jan 2012

Basel-Vanagaite Lina, Zevit Noam, Har Zahav Adi, Guo Liang, Parathath Saj, Pasmanik-Chor Metsada, McIntyre Adam D, Wang Jian, Albin-Kaplanski Adi, Hartman Corina, Marom Daphna, Zeharia Avraham, Badir Abir, Shoerman Oded, Simon Amos J, Rechavi Gideon, Shohat Mordechai, Hegele Robert A, Fisher Edward A, Shamir Raanan

Abstract excerpt

The molecular basis for primary hereditary hypertriglyceridemia has been identified in fewer than 5% of cases. Investigation of monogenic dyslipidemias has the potential to expose key metabolic pathways. We describe a hitherto unreported disease in ten individuals manifesting as moderate to sever...

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Identifiers

PMID: 22226083
DOI: 10.1016/j.ajhg.2011.11.028
PMCID: PMC3257852

Genes

GPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22226083-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.PMID 22226083Read ↗

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