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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