Table 1

Renal and hepatic investigations

Patient 1 2 3 4 5 6 Normal values
Blood pH7.317.257.347.317.257.367.35–7.45
Bicarbonate (mmol/l)14.316.817.2161621.522–29
Anion gap (mmol/l)1615161715NK15–20
Urine pH6.46.46.56.06.05.6
TRP (%)NKNK426859.874.180–100
Aminoaciduria+++NK+
Glycosuria+++NK
Creatinine (μmol/l)76627196546933–85
Bilirubin (μmol/l)
 Total287951-150 252234118162
 Conjugated183312048895154
Alkaline phosphatase (U/l)1-151 832239104214752258165260–350
AST (U/l)NK272232868421–45
ALT (U/l)24NK2527344223–50
γGT (U/l)NK2433NK58321–65
  • 1-150 No measurements were made beyond age 3 days.

  • 1-151 Serum phosphate concentrations were normal at the time of the raised alkaline phosphatase values in all patients.

  • TRP, tubular reabsorption of phosphate; NK, not known; +, present; −, absent; AST, aspartate transaminase; ALT, alanine transaminase; γGT, γ glutamyltransferase.