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 |