title: Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.
abstract: Neurotransmitters (NTs) play a central role in the efficient communication between neurons necessary for normal functioning of the nervous system. NTs can be divided into two groups: small molecule NTs and larger neuropeptide NTs. Inherited disorders of NTs result from a primary disturbance of NTs metabolism or transport. This group of disorders requires sophisticated diagnostic procedures. In this review we discuss disturbances in the metabolism of tetrahydrobiopterin, biogenic amines, γ-aminobutyric acid, foliate, pyridoxine-dependent enzymes, and also the glycine-dependent encephalopathy. We point to pathologic alterations of proteins involved in synaptic neurotransmission that may cause neurological and psychiatric symptoms. We postulate that synaptic receptors and transporter proteins for neurotransmitters should be investigated in unresolved cases. Patients with inherited neurotransmitters disorders present various clinical presentations such as mental retardation, refractory seizures, pyramidal and extrapyramidal syndromes, impaired locomotor patterns, and progressive encephalopathy. Every patient with suspected inherited neurotransmitter disorder should undergo a structured interview and a careful examination including neurological, biochemical, and imaging.
authors.affiliation: Department of Experimental and Clinical Neuropathology, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Krystyna
authors.initials: K
authors.lastname: Szymańska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kuśmierska
authors.forename: Urszula
authors.initials: U
authors.lastname: Demkow
mesh_terms: D001679:Biogenic Amines / Q000378:metabolism; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005492:Folic Acid / Q000378:metabolism; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D018377:Neurotransmitter Agents / Q000235:genetics* / Q000502:physiology; D050479:Neurotransmitter Transport Proteins / Q000235:genetics*; D011736:Pyridoxine / Q000502:physiology; D017981:Receptors, Neurotransmitter / Q000235:genetics*; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
chemical_list: D001679:Biogenic Amines; D018377:Neurotransmitter Agents; D050479:Neurotransmitter Transport Proteins; D017981:Receptors, Neurotransmitter; D001708:Biopterins; D005680:gamma-Aminobutyric Acid; D005492:Folic Acid; C003402:sapropterin; D011736:Pyridoxine