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Summary
Disease
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY - NEW DISORDER?
Synonym
PSAT
Gene locus
Summary
very rare (2 cases)
symptoms
cerebellar atrophy or hypoplasia
early death
microcephaly
onset, infancy
seizures
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
MRI, brain, abnormalities -
L-Serine
decreased
plasma
L-Serine
decreased
cerebrospinal fluid
Glycine
decreased
plasma
Glycine
decreased
cerebrospinal fluid
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year
Pedersen CB
et al.
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
J Biol Chem
278
48
47449-58
2003