Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cytoplasmic glycerol-3-phosphate dehydrogenase

The GPD1 gene encodes an enzyme of triglyceride synthesis. Mutations cause autosomal recessive transient infantile hypertriglyceridemia. Also mutations can disturb both carbohydrate and lipid metabolism.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Transient infantile hypertriglyceridemia
GPD1
Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1

References:

1.

Cefalù AB et. al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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2.

Hopkinson DA et. al. (1974) Rare electrophoretic variants of glycerol-3-phosphate dehydrogenase: evidence for two structural gene loci (GPD1 and GPD2).

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3.

Menaya J et. al. (1995) Molecular cloning, sequencing and expression of a cDNA encoding a human liver NAD-dependent alpha-glycerol-3-phosphate dehydrogenase.

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4.

Prasad R et. al. (1997) Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.

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5.

Brown LJ et. al. (2002) Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases.

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6.

Basel-Vanagaite L et. al. (2012) Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

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7.

Joshi M et. al. (2014) A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

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Update: Sept. 26, 2018