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Table 1 Main clinical, biological, genetic and1H-MRS features of the patients affected with PCD

From: Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

  GAMT (n = 7) CRTR (n = 12)
CLINICAL DATA   
Sex   
 Male 5/7 11/12
 Female 2/7 1/12
Ratio (M/F) 2.5 11
Consanguinity +++ -
Age of onset (years)
 ≤ 2 years 6/7 12/12
 > 2 years 1/7 0/12
Age at diagnosis(years)
 ≤ 2 years 1/7 0/12
 [2–5 years] 3/7 3/12
 [5–10 years] 0/7 4/12
 > 10 years 3/7 5/12
Main clinical signs
 Intellectual disability ++++ ++++
 Speech delay ++++ +++
 Failure to thrive + +
 Hypotonia ++ +
 Myopathy + -
 Motor delay ++ +++
 Epilepsy ++ +
 Extrapyramidal signs + -
 Attention deficit ++++ +++
 Sleeping disturbances ++ +
 Agressive behaviour +++ -
 Autistic behaviour ++ +
Signs leading to consult
 Combined motor and speech delay +++ +++
 Epilepsy ++ +
 Intellectual disability + -
 Autistic behavior - ++
 Familial exploration + +
METABOLIC DATA
Plasma GAA (μmol/l)
 < 15 years: [0.35-1.8]a [14–23] [0.8 - 2.5]
 > 15 years: [1.0-3.5] a [20-23] 2.9
Plasma creatine (μmol/l)
 < 10 years: [17109]a [3.3 - 10] 59; 65
 > 10 years: [6.0-50]a [4–6] 100; 112
Urine GAA/creatinine (mmol/mol)
 < 15 years: [2220]a [399–1319] [30–219]
 > 15 years: [378]a 242; 558 37; 38
Urine creatine/creatinine (mmol/mol)
 < 4 years: [61208]a 11; 33 2762
412 years: [17721]a 18; 26 [1638–3015]
 > 12 years: [11244]a [12–32] [1181–3195]
Brain1H-MRS investigation Absence of creatine peak (n = 5) Absence of creatine peak (n = 6)
GENETIC DATA
 Non-sense mutation 2/6 0/11
 Missense mutation 1/6 2/11
 Insertion 0/6 0/11
 Deletion 0/6 6/11
 Duplication 2/6 0/11
 Splicing mutation 1/6 3/11
FUNCTIONNAL TESTS
GAMT Activity (lymphoblasts) Deficiency (2/2) /
Creatine transport assay (fibroblasts) / Deficit of transport (3/3)
  1. This table groups data from the diagnosed PCD patients and affected siblings. Fraction numbers refer to the number of positive patients (numerator) on the total number of patients studied (denominator) for the indicated item. Frequencies of signs in patients are expressed as + and – symbols: ++++, presence of signs in all patients; -, absence of signs in all patients; +++, ++ and +, presence of the sign in more than 75%, between 25 to 75%, and less than 25% of patients, respectively. a Reference laboratory values and age ranges are those published by Verhoeven et al. [38], patient data being expressed as either range or individual values. GAMT, guanidinoacetate methyltransferase; CRTR, creatine transporter SLC6A8.