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GENATLAS PHENOTYPE

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)