Table 1.
Main clinical, biological, genetic and1H-MRS features of the patients affected with PCD
| 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: [17–109]a |
[3.3 - 10] |
59; 65 |
| >10 years: [6.0-50]a |
[4–6] |
100; 112 |
|
Urine GAA/creatinine (mmol/mol) | ||
| <15 years: [2–220]a |
[399–1319] |
[30–219] |
| >15 years: [3–78]a |
242; 558 |
37; 38 |
|
Urine creatine/creatinine (mmol/mol) | ||
| <4 years: [6–1208]a |
11; 33 |
2762 |
| 4–12 years: [17–721]a |
18; 26 |
[1638–3015] |
| >12 years: [11–244]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) |
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.