3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

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3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

Synonyms: PHGDH deficiency, infantile/juvenile form

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

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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