Serine biosynthesis pathway deficiency, infantile/juvenile form

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Serine biosynthesis pathway deficiency, infantile/juvenile form

A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency and characterized by a phenotypic spectrum ranging from congenital microcephaly psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.

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: // Data version September 2023.

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Serine biosynthesis pathway 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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