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Table 1 Demographics and details of IEM diagnosis ( n = 24)

From: Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

  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
  1. IEM Inborn error of metabolism, AADC Aromatic amino acid decarboxylase, AASA Alpha-aminoadipic semialdehyde, CDG Congenital disorder of glycosylation, MCT-8 Monocarboxylate transporter 8, PTPS 6-pyruvoyl-tetrahydropterin synthase, SD Standard deviation.