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Table 1 Biochemical and molecular parameters of 4 patients

From: Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

  Patient 1 Patient 2 Patient 3 Patient 4
Profile Hypouricaemic hypouricosuria Hypouricaemic hypouricosuria Hyperuricaemic hyperuricosuria Hypouricaemic hyperuricosuria
Serum uric acid (μmol/l) 50 (119–428) 45 (119–428) 525 (119–428) 97 (119–428)
Urine uric acid: creatinine (mmol/mmol) 0. 001 (0.5–1.40) 0. 01 (0.7–1.50) 2.22 (0.4–1.1)  
Fractional excretion of uric acid (%) 1.8 (15–22) 0.48 (15–22) 16 (15–22) 33 (15–22)
Xanthine: creatinine (mmol/mmol) 0.33 (<0.1) 1. 45 (<0.1)   
Hypoxanthine: creatinine (mmol/mmol) 0. 04 (<0.01) 0.104 (<0.01)   
Sulfocysteine: creatinine (μmol/mmol)   188.9 (0–10)   
Enzyme assay    Undetectable hypoxanthine–guanine phosphoribosyl transferase  
Genetic analysis    HPRT1 gene HPRT1 c.402+1G>A (IVS5+1G>A) SLC22A12 gene revealed missense heterozygous transitions p.T467M
Diagnosis Xanthinuria type I or II Molybdenum cofactor deficiency Lesch–Nyhan disease Renal hypouricaemia type 1