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Summary
IMINOGLYCINURIA
IMINOGLYCINURIA, FAMILIAL
242600
OMIM = Online Medalian Inheritance of Men
42062
2p21.31, 5p15.33, 5q33.1
  • no treatment indicated/recommended
rare
autosomal recessive
deficiency of membrane transport of glycine, proline and hydroxyproline renal imminoglycinuria normal in the newborn period
symptoms
Amino acids, urine
mental retardation
no clinical signs or symptoms
urolithiasis
laboratory finding
Glycine100.001000.000.00950.00mmol/mol creatinineurine
Proline300.00600.0021.00213.00+Ôé¼mol/lurinenewborn
Hydroxyproline500.001000.0020.00320.00+Ôé¼mol/lurinenewborn
Literature
Hart PEet al.Antioxidant treatment of patients with Friedreich ataxia: four-year follow-upArch Neurol624621-6262005
Sturm Bet al.Friedreichs ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?J Biol Chem28086701-67082005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Calvani MReyes syndrome: the death of a syndrome? (Or death by a syndrome?)Recenti Prog Med910675-6802000
Delatycki MBWilliamson R, Forrest SMFriedreich ataxia: an overviewJ Med Genet3711,82000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Bosch AMet al.Clinical features of galactokinase deficiency: a review of the literatureJ Inherit Metab Dis258629-6342002