Skip to main content

Table 1 Clinical and laboratory findings of the study sample

From: Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

  P1 P2 P3 P4 P5
  8 yrs, 6 mo[Battini, 2007] 5 yrs, 5 mo[Battini, 2011] 21 mo[Schiaffino, 2005] 5 yrs[Mancardi, 2007] 17 yrs
Clinical picture at diagnosis moderate mental retardation, severe language deficit withoral–motor dyspraxia, epilepsy, temper tantrums, clumsiness mild mental retardation, language deficit severe mental retardation, impairment in social interaction, epilepsy and language deficit moderate mental retardation, epilepsy, language deficit severe mental retardation, language deficit, epilepsy
Type of seizures sporadic occipital seizures two episods of febrile convulsions at 3 and 4 yrs myoclonic seizures (2 yrs) asymmetrical spasms at 8.5 yrs severe epilepsy with SE and polymorphic seizures (generalized, focal, myoclonic); followed by sporadic GTCS secondarygeneralized FS at onset; apparently primary GTCS from 8 to 16 yrs
Urinary molar Cr to Crn ratio and Cr uptake* Cr/Crn ratio: 2.35 (n.v. < 1.0) Cr uptake absent Cr/Crn ratio: 3.08 (n.v. < 1.0) Cr up take absent Cr/Crn ratio: 3.6 (n.v. 0.006-1.2) Cr uptake absent Cr/Crn ratio:1.83 (n.v. 0.03-0.92) Cr uptake absent Cr/Crn ratio: 2981  μmol Cr/mmol Crn(n.v. 22–1273) Cr uptake absent
SLC6A8 mutation c. 1006–1008 del AAC (de novo) c.757 G > C (inherited) IVS1-2A > G (inherited) c.1631 C > T (inherited) c. 1006–1008 del AAC (inherited)
MRI slight white matter hyperintensity in paratrigonal region normal white matter hyperintensity in the posterior regions normal white matter hyperintensity in the posterior regions
MRS PCr/PDE tCr PCr/PDE tCr PCr/PDE tCr PCr/PDE tCr PCr/PDE tCr
n.v.1.40  ± 0.07 n.v.4.37  ± 0.34 n.v.1.40  ± 0.07 n.v.4.37  ± 0.34 n.v.1.40  ± 0.07 n.v.4.37  ± 0.34 n.v.1.40  ± 0.07 n.v.4.37  ± 0.34 n.v.1.40  ± 0.07 n.v.4.37  ± 0.34
T0 0.16 0.65 0.78 2.01 0.86 0.3 - - - -
T1 0.33 1.27 0.92 1.98 1.07 2.1 - - 0.97 2.01
T2 0.58 1.88 # # # # 0.98 2.97 0.95 1.7
T3 0.63 1.8      0.81 3.49 1.00 2.0
Age at Arg treatment onset, dosage and duration of follow-up 8 yrs, 6 mo 300 mg/kg bw/day per os24 mo 5 yrs, 5 mo300 mg/kg bw/day per os24 mo 8 yrs, 6 mo300 mg/kg bw/day per os24 mo 6 yrs, 5 mo300 mg/kg bw/day per os36mo 17 yrs300 mg/kg bw/day per os24 mo
  1. Legend: SE: status epilepticus; GTCS: generalized tonic-clonic seizure; FS: febrile seizures; n.v.: normal values.
  2. Cr: creatine. Crn: creatinine.
  3. TO baseline time, at diagnosis; T1, T2, T3: after 12, 24 and 36 months of Arginine treatment.
  4. *Cr uptake was performed in fibroblasts or lymphoblasts (see the reference indicated).
  5. # not yet acquired.