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3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

Disease definition

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) 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


Classification level: Subtype of disorder
  • Synonym(s):
    • PHGDH deficiency, infantile/juvenile form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Infancy, Childhood
  • ICD-10: E72.8
  • ICD-11: 5C50.6
  • OMIM: 601815
  • UMLS: C5680205
  • MeSH: -
  • GARD: -
  • MedDRA: -
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