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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.