| HYPEROXALURIA, PRIMARY, TYPE I, PH1 | |
| OXALOSIS I, GLYCOLICACIDURIA | |
|
259900
OMIM = Online Mendelian Inheritance of Men | |
|
93598 | |
| Serine--pyruvate aminotransferase | |
| 2.6.1.44 | |
| rare (330 cases) autosomal recessive peroxisomal disorder | |
| Laboratory findings | Oxalic acid inc (urine) Oxalic acid inc (plasma) Creatinine normal/inc (plasma) Glycolic acid inc (urine) Urea normal/inc (plasma) Alanine-glyoxylate-aminotransferase dec (fibroblasts) Glyoxylic acid inc (urine) reducing substances, urine (Clinitest) inc (urine) |
| Symptoms | bone fractures calcinosis cuti cardiomyopathy failure to thrive growth retardation, poor growth hematuria infections (urinary tract) nephrocalcinosis optic atrophy pain, bones or joints pancytopenia renal colic renal failure, acute/chronic renal failure, chronic retinopathy acrocyanosis cyanosis ECG abnormalities [-] hepatomegaly (large liver) hyperparathyreoidism, secondary myocarditis onset, adolescent onset, childhood onset, infancy onset, neonatal osteodystrophy peripheral gangrene peripheral neuropathy skin defects urolithiasis, nephrolithiasis, kidney stones |