Table 1 Sample characteristics

Gender

F 35 (52%), M 32 (48%)

Smoking

yes 8 (12%), no 59 (88%)

Metabolic Disease

 Phenylketonuria

 Glycogenosis

 Galactosemia

 Hyperphenylalaninemia

 Homocystinuria

 MTHFR Deficit

 Hereditary Fructose Intolerance

 Tyrosinemia type 1

 Gyrated Atrophy of the Choroid

 Primary Carnitine Deficiency

38 (56.7%)

10 (14.9%)

4 (6%)

3 (4.5%)

3 (4.5%)

3 (4.5%)

3 (4.5%)

1 (1.5%)

1 (1.5%)

1 (1.5%)

Comorbidities

 Gastrointestinal

 Endocrinological

 Nephrological

 Cardiovascular

 Neurological

 Pneumological

16 (23.9%)

12 (17.9%)

8 (11.9%)

6 (8.9%)

5 (7.5%)

3 (4.5%)