Table 1.
Characteristics of the study population: 190 patients with inherited metabolic diseases.
| Characteristics | n (%) or mean (standard deviation) |
|---|---|
| Sex | |
| Male | 99 (52.1) |
| Female | 91 (47.9) |
| Year of birth | |
| Before 2002 | 58 (30.5) |
| Between 2002 and 2009 | 74 (39.0) |
| After 2009 | 58 (30.5) |
| Age in August 2017 (in years) | 11.9 (6.9) |
| < 6 years of age | 41 (21.6) |
| 6–12 years of age | 65 (34.2) |
| 13–17 years of age | 44 (23.2) |
| > 18 years of age | 40 (21.0) |
| Area of residence | |
| Île-de-France region | 87 (45.8) |
| Elsewhere in France | 98 (51.6) |
| Outside France | 5 (2.6) |
| Inherited metabolic disease | |
| Organic aciduria | 60 (31.6) |
| Methylmalonic aciduria | 29/60 (48.4) |
| Propionic aciduria | 17/60 (28.3) |
| Isovaleric aciduria | 14/60 (23.3) |
| Urea cycle disorder | 55 (28.9) |
| N-acetylglutamate synthase deficiency | 3/55 (5.4) |
| Carbamylphosphate synthetase deficiency | 5/55 (9.1) |
| Ornithine transcarbamylase deficiency | 14/55 (25.4) |
| Argininosuccinate synthetase deficiency | 9/55 (16.4) |
| Argininosuccinate lyase deficiency | 19/55 (34.6) |
| Arginase deficiency | 3/55 (5.5) |
| Carbonic anhydrase deficiency | 2/55 (3.6) |
| Maple syrup urine | 32 (16.8) |
| Glycogen storage disease | 26 (13.7) |
| Type 0 | 3/26 (11.5) |
| Type Ia | 11/26 (42.3) |
| Type Ib | 8/26 (30.8) |
| Type III | 4/26 (15.4) |
| Fatty acid oxidation deficiency | 17 (9.0) |
| CPT2 | 2/17 (11.8) |
| VLCAD | 4/17 (23.5) |
| LCHAD | 8/17 (47.0) |
| MCAD | 2/17 (11.8) |
| SCAD | 1/17 (5.9) |
| Age at diagnosis | |
| Antenatal period | 9 (4.7) |
| One month or less | 123 (64.8) |
| Two months or more | 58 (30.5) |