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Summary
GLUCOGLYCINURIA
138070
OMIM = Online Medalian Inheritance of Men
unknown
rare
ethnic origin: Sweden
autosomal dominant (?)
symptoms
Amino acids, urine
glucosuria
no clinical signs or symptoms
laboratory finding
Glycine 210.00743.00increasedurine
D-Glucose0.000.00 increasedurineno data
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Westphal Vet al.Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-IcHum Mutat225420-4212003