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Summary
PRIMARY HYPEROXALURIA I, PH1
OXALOSIS I, GLYCOLICACIDURIA
259900
OMIM = Online Medalian Inheritance of Men
93598
2q37.3
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • liver-kidney transplantation
  • low-oxalate diet
  • sodium citrate
  • Vitamin B6 (pyridoxine)
rare (330 cases)
autosomal recessive
peroxisomal disorder
symptoms
bone fractures
cardiomyopathy
cyanosis
growth retardation
hematuria
hepatomegaly (large liver)
hyperparathyreoidism, secondary
myocarditis
nephrocalcinosis
optic atrophy
osteodystrophy, renal
pain, bones
peripheral gangrene
peripheral neuropathy
renal failure, acute/chronic
urolithiasis
laboratory finding
Glycolic acid100.00500.0048.00164.00mmol/mol creatinineurine
Glyoxylic acid10.0030.000.0011.00mmol/mol creatinineurine
Oxalate90.00350.000.0040.00mmol/mol creatinineurineadult
Alanine-glyoxylate-aminotransferase0.0040.00 100.00% of normalfibroblasts
reducing substances, urine (Clinitest)0.000.00 +urineno data
ECG abnormalities -
Literature
Mayatepek EHoffmann GF, Larsson A, Becker K, Bremer HJ5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anemiaJ Inher Metab Dis18083-841995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Chen Y-TBurchell AGlycogen storage diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10935-9651995
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Chen Y-TBurchell AGlycogen storage diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10935-9651995
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996