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.
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.

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