ABSTRACT
Psychomotor retardation, microcephaly and seizures of neonatal or childhood origin, progressive polyneuropathy in adults, low concentrations of serine in blood and cerebrospinal fluid (CSF), and deficiency of 3-phosphogylcerate dehydrogenase (3-PGDH), 3-phosphoserineaminotransferase (PSAT), or phosphoserine-phosphatase (PSP). ASCT1 is the major transporter for serine in the central nervous system (CNS); its deficiency leads to neurologic abnormalities similar to those of defects in serine biosynthesis or transport. Therapy with serine may be helpful in any of the defects.
