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Summary
HYPEROXALURIA, PRIMARY, TYPE II, PH2
OXALOSIS II D-GLYCERATE DEHYDROGENASE DEFICIENCY
260000
OMIM = Online Medalian Inheritance of Men
93599
9q13.2
very rare (24 cases)
autosomal recessive
mutations in the GRHPR gene
symptoms
cardiomyopathy
failure to thrive
hematuria
infections (urinary tract)
nephrocalcinosis
optic atrophy
pain, abdominal
pain, bones or joints
renal failure, acute/chronic
retinopathy
urolithiasis, kidney stones
laboratory finding
L-Glyceric acid150.00450.000.009.00mmol/mol creatinineurine
Oxalic acid90.00350.000.0040.00mmol/mol creatinineurineadult
Literature
Murphy EMedical Problems in Obstetrics: Inherited Metabolic DiseaseBest Pract Res Clin Obstet Gynaecol295707-7202015
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
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
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
Feillet F,et al.Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight casesJ Inherit Metab Dis375753-7622014
Feillet F,et al.Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight casesJ Inherit Metab Dis375753-7622014
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
Cleary M,et al.Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomesMol Genet Metab1104418-4232013
Dobrowolski SF,et al.Methylome repatterning in a mouse model of Maternal PKU SyndromeMol Genet Metab1133194-1992014
Rocha JC,MacDonald A, Trefz FIs overweight an issue in phenylketonuria?Mol Genet Metab Suppl1100S18-S242013
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
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