PSAT deficiency
MeSH: C567032ORPHA: 284417
Overview
serine deficiency that has material basis in deficiency of phosphoserine aminotransferase and is characterized by low concentrations of serine and flycine in plasma and cerebrospinal fluid
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with PSAT deficiency, sourced from HPO and Orphanet clinical annotations.
Failure to thrive in infancyHyperglycinemiaFeeding difficulties in infancyPrimary microcephalyHyposerinemiaProfound global developmental delayInappropriate cryingThickened nuchal skin foldSeizureHypertoniaHyperreflexiaIntrauterine growth retardationHypoplasia of the corpus callosumAxial hypotoniaCerebral white matter hypoplasiaHypertelorismSloping foreheadMicrognathiaShort neckSpastic tetraparesisCerebellar vermis hypoplasiaMyoclonusLissencephalyCraniosynostosisBilateral talipes equinovarusEEG with polyspike wave complexesLimb joint contractureDepressed nasal bridgeKnee flexion contractureAnkle flexion contractureLateral ventricle dilatationParoxysmal involuntary eye movementsIchthyosisSimplified gyral patternEpileptic spasmEEG with focal sharp wavesGastrostomy tube feeding in infancyDelayed myelinationNasogastric tube feedingCyanotic episode
Classification & Codes
MeSH Code
C567032Orphanet Code
ORPHA:284417PSAT deficiency
| MeSH | C567032 |
| Orphanet | ORPHA:284417 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO