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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-06-2010
Symbol PSATD
Location 9q21.2
Name phosphoserine aminotransferase deficiency
Corresponding gene PSAT1
Main clinical features
  • severe neurological disorder presenting typically with microcephaly, seizures, psychomotor retardation, and spastic tetraparesis; at the MRI, generalized atrophy and a hypoplastic cerebellar vermis
  • microcephaly shortly after birth and extensive cerebellar pathology was also present and the seizures did not respond to amino acid therapy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s) . oral l-serine and glycine treatment, at the first day of life associated with absence of symptoms durin long moment (Tabatabaie 2010)