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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
Related
phosphoserine aminotransferase; phosphohydroxythreonine aminotransferase; PSAT (PSAT1, PSA)
General
amino acid inborn error of metabolism
Database Correlations
OMIM 610992
References
OMIM :accession 610992