Phosphoserine aminotransferase deficiency

Definition:

Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of 3-PGDH deficiency [DS:H01079]. Mutations in the PSAT1 gene have been identified.

References:

[1]. Claire E Hart, et al. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007 May;80(5):931-7. [Content Brief]

[2]. L Tabatabaie, et al. L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab. 2010 Mar;99(3):256-62. [Content Brief]

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