No. of cases | |
---|---|
Sex | |
Male | 10 |
Female | 14 |
Mean age (years, months) (SD) | 7y 5 m (4y 1 m) |
Metabolic diagnosis | |
Respiratory chain defects | 5 |
Organic acidurias | 10 |
Glutaric aciduria type I | 4/10 |
Propionic acaduria | 2/10 |
Homocystinuria | 2/10 |
Maple syrup urine disease | 1/10 |
Methylmalonic aciduria | 1/10 |
Disorders of carbohydrate metabolism | 1 |
Galactosaemia | 1/1 |
Neurotransmitter defects | 2 |
PTPS deficiency | 1/2 |
AADC deficiency | 1/2 |
Other | 6 |
CDG 1a | 3/6 |
AASA deficiency | 1/6 |
MCT-8 deficiency | 1/6 |
Nonketotic hyperglycinemia | 1/6 |