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Isolated glycerol kinase deficiency
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Disease definition
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD).
ORPHA:408
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Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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Further information on this disease
Patient-centred resources for this disease
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Newborn screening
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