Conditions / Genetic
PHGDH deficiency
info · Genetic
A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
Signs and symptoms
- Hypertonia
- Spastic tetraplegia
- Hypsarrhythmia
- Seizure
- Adducted thumb
- Reduced 3-phosphoglycerate dehydrogenase activity
- Nystagmus
- Primary microcephaly
- Developmental cataract
- Megaloblastic anemia
Also known as: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY