Table 2.
Amino acid metabolism |
glutaric academia |
GAMT deficiency |
Hartnup disease |
homocystinuria |
methylmalonic acidemia |
propionic acidemia |
sulfite oxidase deficiency |
Neurotransmitter metabolism |
AADC deficiency |
dihydropterin reductase deficiency |
GTP cyclohydrolase deficiency |
PTPS deficiency |
tyrosine hydroxylase deficiency |
Lipid metabolism/storage |
GM1 or GM2 gangliosidosis |
Krabbe disease |
metachromatic leukodystrophy |
neuronal ceroid lipofuscinosis |
Niemann-Pick disease, type C |
Pelizaeus-Merzbacher disease |
Ion/metal homeostasis |
aceruloplasminemia |
Cav2.1 calcium channel defects |
Fahr disease |
neuroferritinopathy |
rapid-onset dystonia-Parkinsonism |
Wilson disease |
Polyglutamine expansions |
dentato-rubral-pallidoluysian atrophy |
Huntington disease |
spinocerebellar ataxias (1, 2, 3, 6, 7, 17) |
DNA handling/transcription |
ataxia-oculomotor apraxia |
ataxia telangiectasia |
Cockayne syndrome |
Lubag |
Rett syndrome |
xeroderma pigmentosum |
Mitochondrial function |
deafness-dystonia syndrome |
fumarase deficiency |
Leber hereditary optic neuropathy |
Leigh disease |
MELAS |
MERRF |
pyruvate dehydrogenase deficiency |
Other |
ataxia with vitamin E deficiency |
biotin responsive basal ganglia disease |
frontotemporal dementias |
Lesch-Nyhan disease |
myoclonus dystonia |
neuroacanthocytosis |
neuronal intranuclear inclusion disease |
Oppenheim dystonia |
pantothenate kinase neurodegeneration |
triosephosphate isomerase |
whispering dysphonia |
Abbreviations: AADC, aromatic amino acid decarboxylase; Cav2.1, P/Q-type voltage regulated calcium channel; GAMT, guanidinoacetate methyltransferase; GTP, gunosine triphosphate; MELAS, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes; MERRF, mitochondrial encephalopathy with ragged red fibers; PTPS, pyruvoyltetrahydropterin synthase.