Table 1.
Diseases among ethnic Danes (n = 117) and ethnic minorities (n = 38) born between January 2002 and April 2017.
| Diagnosis | D (%) | M | DF | OMIM |
|---|---|---|---|---|
| Argininosuccinic acidemia | 4 (3.4) | 0 | ~ 1/100,000 | #207900 |
| Biotinidase deficiency | 13 (11) | 7 (18.4) | ~ 1/75,000 | #253260 |
| Carnitine palmitoyltransferase IA deficiency | 0 | 1 (2.6) | Unknown | #600528 |
| Carnitine transporter deficiency | 3 (2.6) | 1 (2.6) | ~ 1/100,000 | #212140 |
| Citrullinemia | 0 | 1 (2.6) | Unknown | #215700 |
| Galactosemia | 1 (0.85) | 0 | Unknown | #230400 |
| Glutaric acidemia type 1 | 7 (5.9) | 3 (7.9) | Unknown | #231670 |
| HMG-CoA synthase deficiency | 0 | 1 (2.6) | Unknown | #605911 |
| Holocarboxylase synthetase deficiency | 2 (1.7) | 0 | ~ 1/100,000 | #253270 |
| Isobutyryl-CoA dehydrogenase deficiency | 1 (0.85) | 0 | Unknown | #611283 |
| Isovaleric acidemia | 1 (0.85) | 0 | Unknown | #243500 |
| Long-chain hydroxyacyl-CoA dehydrogenase deficiency | 3 (2.6) | 2 (5.3) | ~ 1/75,000 | #609016 |
| Medium-chain acyl-CoA dehydrogenase deficiency | 68 (58) | 14 (36.8) | ~ 1/10,000 | #201450 |
| 3-Methylcrotonyl-CoA carboxylase deficiency | 6 (5.1) | 1 (2.6) | Unknown | #210200 |
| 3-Methylglutaconyl-CoA hydratase deficiency | 0 | 1 (2.6) | Unknown | #250950 |
| Methylmalonic acidemia | 2 (1.7) | 3 (7.9) | ~ 1/30,000 | #251000 |
| Propionic acidemia | 2 (1.7) | 0 | ~ 1/200,000 | #606054 |
| Tyrosinemia type 1 | 1 (0.85) | 1 (2.6) | ~ 1/100,000 | #276700 |
| Very long-chain acyl-CoA dehydrogenase deficiency | 3 (2.6) | 2 (5.3) | ~ 1/75,000 | #201475 |
| Total | 117 (100) | 38 (100) |
D: number of patients in the Danish group (%).
M: number of patients in the ethnic minority group (%).
DF: disease frequency.
Sibs: nine cases of IEM among sibs in the Danish group (eight MCADD, one 3-MCC deficiency), and three cases of IEM among sibs in the ethnic minority group (two MCADD, one Glutaric acidemia type 1).
One case of holocarboxylase synthetase deficiency in the Danish group was functionally a heterozygote.