Description : Deficiency of phosphoserine aminotransferase (PSAT; EC 2.6.1.52) is characterized
biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine
and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia,
and psychomotor retardation. Outcome is poor once the individual becomes symptomatic,
but treatment with serine and glycine supplementation from birth can lead to a normal
outcome (Hart et al., 2007).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the phosphoserine aminotransferase-1 gene (PSAT1, 610936.0001);