Zytoplasmatische Glycerol-3-phosphate-Dehydrogenase
Das GPD1-Gen kodiert ein wichtiges Enzym der Triglyceridsynthese. Mutationen führen zur autosomal rezessiven transienten infantilen Hypertriglyceridämie. Weiterhin ist ein Zusammenhang mit dem Kohlenhydrat-Stoffwechsel beobachtet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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8. |
Orphanet article
Orphanet ID 303828
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9. |
NCBI article
NCBI 2819
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10. |
OMIM.ORG article
Omim 138420
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Update: 14. August 2020