Table 1

Biochemical analyses
patient
 normal range
 #1
 #2
 #3
 #4
 #5
 #6
TNSALP in leukocytes
 2–18 nmol/min/mg protein
 0.1
 0
 0.11
 0.1
 0.1
 0.5
PEA in serum/plasma
 0–60 μmol/l
 25
 Nd
 98
 6
 7
 97
PEA/Cr in urine
 9–25 mmol/mol Cr
 252
 148
 250
 157
 117
 155
PLP in plasma
 5–30 ng/ml
 1039
 408
 185
 324
 446
 165
Age
 years
 2
 2,5
 3
 7,42
 9
 13

Abbreviations:

TNSALP tissue non-specific alkaline phosphatase,

PEA phosphoethanolamin,

Cr creatinine,

PLP pyridoxal phosphate

Girschick et al. Orphanet Journal of Rare Diseases 2006 1:24   doi:10.1186/1750-1172-1-24