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Summary
DIBASIC AMINO ACIDURIA I
HYPERDIBASIC AMINOACIDURIA I
222690
OMIM = Online Medalian Inheritance of Men
1032
unknown
rare
autosomal recessive
13 members of a French-Canadian kindred
symptoms
Amino acids, urine
intestinal malabsorption
mental retardation
no clinical signs or symptoms
laboratory finding
Arginine20.00100.0035.00214.00+€mol/lurinenewborn
L-Lysine200.001000.0010.0069.00mmol/mol creatinineurine
Ornithine70.002500.000.0014.00mmol/mol creatinineurine
L-Cystine0.000.00 increasedurineno data
Literature
Yeh JNet al.Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infantsJ Pediatr1480642-64&2006
Simon Eet al.Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the diseaseJ Inher Met Dis290532-5372006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994