D-glycerate dehydrogenase deficiency

D-glycerate dehydrogenase deficiency
Other names3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD
Condition is acquired via an autosomal recessive pattern
SpecialtyMetabolism
SymptomsCongenital microcephaly, psychomotor retardation and seizures in infants, moderate developmental delay and behavioral disorders juveniles.[1]
Usual onsetAdolescent, Infancy, Childhood
CausesGenetic
PreventionN/A
TreatmentDiet
MedicationSerine
PrognosisShortened life expectancy
Frequency<1 / 1 000 000

D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine. This disorder is called Neu–Laxova syndrome in neonates.

  1. ^ "Orphanet: Search by disease name". Archived from the original on 12 October 2019. Retrieved 1 December 2019.
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