Table 1.

Pertinent laboratory investigations for three patients with PCBD1 mutations

ParameterPatient 1 (BIODEF 272)Patient 2 (BIODEF 329) BaselinePatient 3 (BIODEF 319) BaselineReference Range
Baseline500 mg/d Mg2+
Serum indices
 Na+ (mmol/L)141138139135–145
 K+ (mmol/L)4.04.54.03.5–5.0
 Mg2+ (mmol/L)0.64a0.760.65a0.740.7–1.1
 Ca2+ (mmol/L)2.412.552.252.432.20–2.65
 Pi (mmol/L)1.131.161.150.8–1.4
 Creatinine (mmol/L)0.0690.0660.0620.0560.045–0.110
 HbA1c (%)7.2a4.956.5a4.3–6.1
 Uric acid (μmol/L)310135–510
Urinary indices
 Mg2+ (mmol/L)6.163.962.6
 Mg2+ (mmol/24 h)5.252–8
 FEMg (%)6.6a11.1a3.5<4
 Ca2+ (mmol/L)4.473.042.99
 Ca2+ (mmol/24 h)5.61<7.5
 FeCa (%)0.91.80.86>1
 Pi (mmol/L)40.2913.6118.2
 FePi (%)1717.65–20
 Creatinine (mmol/L)14.294.408.0
 Creatinine (mmol/24 h)149–18
GFR (ml/min per 1.73 m2)128135124≥90
CCr (ml/min)12689–143
  • FEMg was calculated using the following formula: FEMg=(UMg×PCr)/[(0.7×PMg)×UCr×100]. GFR was calculated by the Modification of Diet in Renal Disease formula. FeCa, fractional excretion of Ca2+; FePi, fractional excretion of phosphate (Pi); CCr, creatinine clearance.

  • aAbnormal value.