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Table 3 Diagnostic grouping of recruited subjects

From: Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale

Diagnostic category

Total number of subjects

Disorders of neurotransmitter metabolism

 Aromatic L-amino acid decarboxylase deficiency

 Succinic semialdehyde dehydrogenase deficiency

 Guanidine triphosphate cyclohydrocylase (GTPCH) deficiency*

3

Mitochondrial respiratory chain disorders

7

Disorders of pyruvate metabolism

 Pyruvate dehydrogenase deficiency*

2

Disorders of glucose transport

 Glucose-1-transporter deficiency*

2

Lysosomal disorders

 Metachromatic leukodystrophy

1

Leukodystrophy

 Alexander disease

1

Developmental and epileptic encephalopathy (DEE)

5

Others

 Congenital disorder of glycosylation type 1a

 ACTB related dystonia

2

Undiagnosed neurodegenerative conditions

13

Total

36

  1. *Diagnoses regarded as treatable neurometabolic conditions but subject demonstrated neurodegeneration clinically