phosphoserine aminotransferase deficiency

Genetics

• associated with defects in PSAT1

Clinical manifestations

• intractable seizures
• acquired microcephaly
• hypertonia
• psychomotor retardation

Laboratory

• low plasma serine & plasma glycine
• low CSF serine & CSF glycine

More general terms

• amino acid inborn error of metabolism

Additional terms

• phosphoserine aminotransferase; phosphohydroxythreonine aminotransferase; PSAT (PSAT1, PSA)

Database

• OMIM: https://mirror.omim.org/entry/610992