Listado de la enfermedades relacionadas con los neurotransmisores
The diseases that the Association originally focuses on include:
– 4-hydroxybutyric aciduria or SSADH deficiency (succinic semialdehyde dehydrogenase)
– GABA transaminase deficiency
– Mutations in GABA receptors
2.Defects on the biogenic amines (dopamine and serotonin) and pterins
– Tyrosine hydroxylase deficiency
– Amino acid decarboxylase deficiency
– Segawa syndrome (or GTPCH deficiency)
– Sepiapterin reductase deficiency
– Monoamine oxidase deficiency
– Dopamine transporter deficiency
– Dopamine beta-hydroxilase deficiency
– Vesicular monoamine transporter deficiency
3.Vitamin defects which take part in the neurotransmitter production
– Pyridoxine-dependent epilepsy (PDE)
– Pyridoxal phosphate deficiency.
– Non-ketotic hyperglycinemia (NKH), caused by mutations in genes encoding the glycine cleavage system (GCS)
– Mutations in the glycine transporters and receptors
– Serine deficiency.
– Mutations in the glutamate transporters and receptors.