Table 2.

Current number, gender distribution, age range, age at first symptoms and age at diagnosis of 95 patients included in the iNTD registry. m = male; f = female.

Disease name	Number and gender of patients	Age range	Age range at first symptoms (median)	Age range at diagnosis (median)
AADC deficiency	24 (5 m/19f)	8.0 months–36.0 years	1st month of life–5.0 months (2.5 months)	4.9 months–32.0 years (9.8 months)
TH deficiency	11 (3 m/8f)	3.0 years–35.6 years	1st month of life–5.0 months (3.0 months)	5.5 months–30.0 years (2.8 years)
MAOA deficiency	1 (1 m/0f)	4.5 years	6.0 months	21.6 months
ARGTPCH deficiency	4 (4 m/0f)	4.0 years–32.7 years	1st month of life–48.0 years (13.8 months)	5.9 months–6.0 years (1.4 years)
ADGTPCH deficiency	12 (3 m/9f)	3.8 years–41.8 years	6.0 months–9.0 years (44.1 months)	1.5 years–36.0 years (7.0 years)
PTPS deficiency	22 (9 m/13f)	2.0 years–42.5 years	1st month of life–1.5 years (3.8 months)	0.1 months–7.8 years (1.0 month)
DHPR deficiency	11 (5 m/6f)	3.0 months–26.3 years	1st month of life–2.0 years (8.0 months)	0.1 months–2.8 years (6.9 month)
SR deficiency	2 (1 m/1f)	3.7 years–8.6 years	6.0 months (6.0 months)	6.9 months −.6 years (3.6 years)
3-PGDH deficiency	1 (1 m/0f)	8.9 years	1st month of life	4.9 months
NKH	4 (2 m/2f)	5.2 years–17.9 years	1st month of life–3.0 years (9.8 months)	0.1 months–5.0 years (2.4 months)
SSADH deficiency	4 (2 m/2f)	1.2 years–10.5 years	2.0 months–.5 years (10.3 months)	2.9 years–10.8 years (4.0 years)
Total	95 (36 m/59f)	3.0 months–42.5 years	1st month of life–9.0 years (3.0 months)	0.1 months–36.0 years (1.1 years)