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Summary
GLUCOGLYCINURIA
138070
OMIM = Online Medalian Inheritance of Men
unknown
rare
ethnic origin: Sweden
autosomal dominant (?)
symptoms
Amino acids, urine
aminoaciduria
glucosuria
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
laboratory finding
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
D-Glucose800.001800.00 mmol/mol creatinineurine
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
Lew RM,et al.Tay-Sachs disease: current perspectives from AustraliaAppl Clin Genet8019-252015