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Summary
HYPEROXALURIA, PRIMARY, TYPE 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
calcinosis cuti
cardiomyopathy
cyanosis
growth retardation
hematuria
hepatomegaly (large liver)
hyperparathyreoidism, secondary
myocarditis
nephrocalcinosis
optic atrophy
osteodystrophy
pain, bones or joints
peripheral gangrene
peripheral neuropathy
renal failure, acute/chronic
retinopathy
urolithiasis, kidney stones
laboratory finding
Glycolic acid100.00500.0048.00164.00mmol/mol creatinineurine
Glyoxylic acid10.0030.000.0011.00mmol/mol creatinineurine
Oxalic acid90.00350.000.0040.00mmol/mol creatinineurineadult
Alanine-glyoxylate-aminotransferase0.0040.00 100.00% of normalfibroblasts
reducing substances, urine (Clinitest)0.000.00 +urineno data
ECG abnormalities -
Literature
Murphy EMedical Problems in Obstetrics: Inherited Metabolic DiseaseBest Pract Res Clin Obstet Gynaecol295707-7202015
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
Waisbren SE,et al.Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal CharacteristicsJIMD Rep21023-332015
Feillet F,et al.Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight casesJ Inherit Metab Dis375753-7622014
Aguiar A,et al.Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approachMol Genet Metab115117-222015
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
Trefz FK,et al.The Kuvan(-«) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinJIMD Rep23035-432015
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