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Summary
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY - NEW DISORDER?
PSAT
very rare (2 cases)
symptoms
cerebellar atrophy or hypoplasia
early death
microcephaly
onset, infant
seizures
laboratory finding
MRI, brain, abnormalities -
Serine decreasedplasma
Serine decreasedspinal fluid
Glycine decreasedplasma
Glycine decreasedspinal fluid
Literature
Pedersen CBet al.Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiencyJ Biol Chem2784847449-582003