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Summary
GLYCEROL INTOLERANCE SYNDROM
GLYCEROL INTOLERANCE SYNDROM GIS
unknown
rare
GIS may be caused by partial deficiency of FDPase [Beatty ME et al. 2000]
symptoms
diarrhea
hypoglycemia
ketosis
lethargy, drowsiness, malaise or sleep disorder
nausea
onset, child
onset, newborn
pallor
prematurity
seizures
shortened gestation time
sweating
vomiting
laboratory finding
Phosphorus, inorganic0.501.001.403.00mmol/lserum
Uric acid 0.605.50increasedserum
Glucose0.503.002.805.00mmol/lserum
Ketone bodies ++/+++urine
Fructose 1,6 biphosphatase 100.00decreased activityliver
Literature
de Lonlay Pet al.A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesJ Med Genet38114-192001
Korman SHet al.Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutationAnn Neurol592411-4152006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994