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phosphoglycerate dehydrogenase deficiency
Pathology:
- disorder of L-serine biosynthesis
Genetics:
- mutation in gene for D-3-phosphoglycerate dehydrogenase
Clinical manifestations:
1) congenital microcephaly
2) psychomotor retardation
3) seizures
Related
D-3-phosphoglycerate dehydrogenase; 3-PGDH (PHGDH, PGDH3)
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 601815
References
OMIM :accession 601815