Visit Metagene.de!

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