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://www.orphadata.org. Data version May 2026
Newly diagnosed with
Serine biosynthesis pathway deficiency, infantile/juvenile form?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.