phosphoglycerate dehydrogenase deficiency

Introduction

Pathology:

• disorder of L-serine biosynthesis

Genetics

• mutation in gene for D-3-phosphoglycerate dehydrogenase

Clinical manifestations

• congenital microcephaly
• psychomotor retardation
• seizures

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• D-3-phosphoglycerate dehydrogenase; 3-PGDH (PHGDH, PGDH3)

Database

• OMIM: https://mirror.omim.org/entry/601815