PSAT deficiency

info · Genetic

A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.

Signs and symptoms

Cerebellar vermis hypoplasia
Decreased CSF serine concentration
Global developmental delay
Hyposerinemia
Hypoglycinemia
Decreased CSF glycine concentration
Hypertonia
Feeding difficulties
Seizure
Secondary microcephaly

Also known as: Phosphoserine aminotransferase deficiency