PHGDH deficiency

Definition

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

Also known as PHGDH deficiency, PHOSPHOGLYCERATE dehydrogenase deficiency — per MONDO

Also identified as

• DOID 0050722 per MONDO
• MESH C566618 per MONDO
• OMIM 601815 per MONDO
• Orphanet 79351 per MONDO
• UMLS C1866174 per MONDO