Listado de la enfermedades relacionadas con los neurotransmisores

The diseases that the Association originally focuses on include:

1.GABA defects

– 4-hydroxybutyric aciduria or SSADH deficiency (succinic semialdehyde dehydrogenase)

– GABA transaminase deficiency

– Homocarnosinosis

– 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.

4.Glycine defects

– Non-ketotic hyperglycinemia (NKH), caused by mutations in genes encoding the glycine cleavage system (GCS)

– Mutations in the glycine transporters and receptors

5.Serine defects

– Serine deficiency.

6.Glutamate defects

– Mutations in the glutamate transporters and receptors.