D-glycerate dehydrogenase deficiency

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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D-glycerate dehydrogenase deficiency
Synonyms	Hyperglycinemia, primary hyperoxaluria type 2
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Metabolic acidosis, failure to thrive, developmental delay
Complications	N/A
Onset	Infancy
Duration	Chronic
Types	N/A
Causes	Mutations in the GRHPR gene
Risks	Family history of the condition
Diagnosis	Genetic testing, urine organic acid analysis
Differential diagnosis	Primary hyperoxaluria type 1, glycine encephalopathy
Prevention	N/A
Treatment	Dietary management, vitamin B6 supplementation
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

D-glycerate dehydrogenase deficiency or PHGDH 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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