SLC, solute carriers

SLC transporter disorders with neurological involvement and identified treatment.

• SLC2A1 Glycine transporter deficiency encephalopathy., which manifests with dystonia or epilepsy, and can be treated with a ketogenic diet.
• Embed of Glycine transporter deficiency encephalopathy.SLC12A5-related developmental and epileptic encephalopathy., which can be treated with levodopa.
• SLC6A5SLC19A3, causes biotin-thiamine-responsive basal ganglia diseaseEmbed of SLC12A5-related developmental and epileptic encephalopathy.
• , which causes a severe early-onset epileptic encephalopathy with basal ganglia involvement on neuroimaging, and responds excellently to the administration of biotin and thiamine. SLC30A10-related early-onset dystonia-parkinsonism syndrome.Embed of SLC30A10-related early-onset dystonia-parkinsonism syndrome.
• Transportopathies constitute a very large group of rare genetic diseases caused by alterations in membrane transporters (mainly of the SLC family), leading to highly diverse neurological phenotypes, which include dystonia-parkinsonism, severe epileptic encephalopathies, neurodevelopmental disorders, or paroxysmal movement disorders. The solute carrier (SLC) gene family is the largest family of membrane transporters in humans, with more than 400 members grouped into 65 families.Clinical manifestations are very diverse and depend on the substrate of the affected transporter (ions, amino acids, neurotransmitters, glucose, metals, etc.).
• Some classic transportopathies: SLC2A1, causes GLUT1 deficiency syndrome (GLUT1DS)
• , characterized by early refractory epileptic seizures, developmental delay, microcephaly, and paroxysmal movement disorder. It responds excellently to a ketogenic diet.SLC1A3, causes episodic ataxia type 6, characterized by recurrent episodes of cerebellar ataxia, vertigo, and nystagmus.

SLC6A1, causes SLC6A1-related myoclonic-atonic epileptic encephalopathy

• SLC16A2, Allan-Herndon-Dudley syndrome, or MCT8 deficiency, an X-linked disease that causes global developmental delay and movement disorder, frequently in the form of spasticity.
• SLC6A9, causes glycine transporter deficiency encephalopathy (GLYT1-encephalopathy) which is part of the differential diagnosis of classic non-ketotic hyperglycinemia.
• SLC12A5, causes SLC12A5-related epilepsy of infancy with migrating focal seizures, a drug-resistant developmental and epileptic encephalopathy of onset in early infancy.
• SLC39A14, causes SLC39A14-related early-onset dystonia-parkinsonism syndrome, a type of hereditary parkinsonism that enters the differential diagnosis of other early-onset neurodegenerative diseases with associated movement disorder.

Other non-SLC transportopathies:

• ATP7B, causes copper transport deficiency-related syndromes, which include Wilson's disease and occipital horn syndrome.
• ATP1A3, causes ATP1A3-related neurological disorders, a group of diseases with different semiology that includes at least 3 phenotypes: alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism syndrome, and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss).
• ABCD1, causes X-linked adrenoleukodystrophy, a peroxisomal disease.