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Glyceronephosphate O-acyltransferase deficiency
MONDO:0100273Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.
Also known as: GNPAT deficiency, glyceronephosphate O-acyltransferase deficiency
2 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsSub-types
Broader categories
Disease
(717)
Metabolic disease
(241)
Inherited lipid metabolism disorder
(199)
Hereditary disease
(188)
Inborn errors of metabolism
(47)
Human disease
(15)
Disease of genetic or genomic mechanism
(2)
Peroxisomal disease
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)