Research Article

Increased Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene

Table 1

Demographic and clinical characteristics of Caucasian patients treated with valproic acid (VPA) enrolled into the study protocol.

Pennsylvania cohort ( )Warsaw cohort ( )Combined ( )

Minor allele (A) frequency in CPS1 4217C > A0.3020.3180.307
Number of carriers of the minor allele (%)50 (52%)23 (52%)73 (52%)
Gender (F/M)49/4822/2371/71
Age (years)
Weight (kg)
Number of patients administered multiple antiepileptic drugs (%)56 (57.7%)*11 (24.4%)67 (47.2%)
Number of subjects with hyperammonemia (>65  mol/L) (%)5 (5.2%)6 (13.3%)11 (7.7%)
VPA dosage (mg/24 hrs)
Plasma VPA level
Aminotransferases (U/L):
 AST
 ALT
Blood ammonia level
( mol/L): average ± SD,
median (interquartile range) and data range
22 (19–29)* 
113
37 ( 35–55)
162
24 (11–76)
175

by T test or by Mann-Whitney test for differences between investigated cohorts.