3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

Arch Dis Child. 1996 Jun;74(6):542-5. doi: 10.1136/adc.74.6.542.


Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism. The youngest boy also had congenital bilateral cataract. Magnetic resonance imaging of the brain showed evidence of dysmyelination. Plasma serine as well as plasma and cerebrospinal fluid glycine concentrations were also decreased but to a lesser extent. Treatment with oral serine in the youngest patient significantly increased cerebrospinal fluid serine and abolished the convulsions. In fibroblasts of both patients, a decreased activity was demonstrated of 3-phosphoglycerate dehydrogenase, the first step of serine biosynthesis (22% and 13% of the mean control value). This is an unusual disorder as the great majority of aminoacidopathies are catabolic defects. It is a severe but potentially treatable inborn error of metabolism that has not been previously reported in man.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / cerebrospinal fluid
  • Amino Acid Metabolism, Inborn Errors / drug therapy
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Carbohydrate Dehydrogenases / cerebrospinal fluid
  • Carbohydrate Dehydrogenases / deficiency*
  • Fibroblasts / enzymology
  • Glycine / cerebrospinal fluid
  • Humans
  • Infant
  • Male
  • Microcephaly / metabolism
  • Phosphoglycerate Dehydrogenase
  • Psychomotor Disorders / metabolism
  • Serine / biosynthesis*
  • Serine / therapeutic use


  • Serine
  • Carbohydrate Dehydrogenases
  • Phosphoglycerate Dehydrogenase
  • Glycine