PHGDH deficiency, infantile/juvenile form
MeSH: C566618ORPHA: 79351
Overview
serine deficiency that has material basis in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis
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 PHGDH deficiency, infantile/juvenile form, sourced from HPO and Orphanet clinical annotations.
Cerebral hypoplasiaHypoglycinemiaHyposerinemiaMicrocephalyEsotropiaSpasticityFailure to thriveIntrauterine growth retardationVomitingShort statureCerebral hypomyelinationDevelopmental stagnationEpileptic spasmSevere global developmental delayPrimary microcephalyFeeding difficultiesDelayed myelinationCerebral white matter atrophyInguinal herniaHypogonadismDevelopmental cataractAtypical behaviorIrritabilityAdducted thumbHypertoniaUmbilical herniaMegaloblastic anemiaAbnormal facial shapeGastroesophageal refluxBilateral tonic-clonic seizureHypoplasia of the corpus callosumVentriculomegalyGeneralized non-motor (absence) seizureGeneralized myoclonic seizureAthetosisSpastic tetraplegiaAbnormal cortical gyrationGeneralized ichthyosisAbnormality of hair textureAtonic seizureFocal emotional seizure with laughingModerate global developmental delayInappropriate cryingEsophagitisCerebral visual impairment
Classification & Codes
MeSH Code
C566618Orphanet Code
ORPHA:79351PHGDH deficiency, infantile/juvenile form
| MeSH | C566618 |
| Orphanet | ORPHA:79351 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO