Table 2 Sample size sorted on disease classification and age range

Pyrimidine—Full name (Abbreviation, OMIM-ID, HGNC name)

Beta-ureidopropionase deficiency (UPB1D, 613,161, UPB1)

1 (J)

Dihydropyrimidine dehydrogenase deficiency (DPD, 274,270, DPYD)

1 (I)

1 (A)

1 (E)

1 (K)

Urea cycle—Full name (Abbreviation, OMIM-ID, HGNC name)

Argininosuccinic aciduria (ASLD, 207,900, ASL)

2 (M, N)

2 (L, T)

1 (F)

Citrullinemia type I (ASS1, 215,700)

1 (D)

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS, 238,970, SLC25A15)

1 (H^#)

Ornithine Transcarbamylase deficiency (OTCD, 311,250, OTC)

1 (G)

2 (R, S)

1 (O)