Table 1.

Birth prevalence for POLG disease patients born in 2002–2011 and patients born in March 2002 to February 2012 clinically diagnosed with inherited metabolic diseases included in the Norwegian newborn screening program from March 2012.

	Birth prevalence
POLG disease	1:48,780
Medium chain acyl‐CoA dehydrogenase deficiency	1:74,573
Tyrosinaemia type 1	1:74,573
Glutaric aciduria type 1	1:99,431
Maple syrup urine disease	1:119,318
Methylmalonic aciduria	1:119,318
Isovaleric aciduria	1:149,147
Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency	1:149,147
Trifunctional protein deficiency	1:198,863
Carnitine‐acylcarnitine translocase deficiency	1:298,295
Glutaric aciduria type 2	1:298,295
Holocarboxylase synthetase deficiency	1:298,295
Beta‐ketothiolase deficiency	1:596,591
Cystathionine β‐synthase deficiency	1:596,591
Very long‐chain acyl‐CoA dehydrogenase deficiency	1:596,591
Biotinidase deficiency	0
Carnitine palmitoyl‐transferase 1A deficiency	0
Carnitine palmitoyl‐transferase 2 deficiency	0
Carnitine transporter deficiency	0
3‐hydroxy 3‐methylglutaryl‐CoA lyase deficiency	0
Propionic aciduria	0

Table adapted from Tangeraas et al. ¹⁹