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Article

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Journal of inherited metabolic disease - 1 Sept 2016

Dionisi-Vici Carlo, Shteyer Eyal, Niceta Marcello, Rizzo Cristiano, Pode-Shakked Ben, Chillemi Giovanni, Bruselles Alessandro, Semeraro Michela, Barel Ortal, Eyal Eran, Kol Nitzan, Haberman Yael, Lahad Avishai, Diomedi-Camassei Francesca, Marek-Yagel Dina, Rechavi Gideon, Tartaglia Marco, Anikster Yair

Abstract excerpt

Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the GPD1 gene, which encodes the cytosolic isoform of glycerol-3-phosphate dehydrogenase. Here...

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Identifiers

PMID: 27368975
DOI: 10.1007/s10545-016-9956-7

Genes

GPD1

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