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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Serine biosynthesis pathway deficiency, infantile/juvenile form?
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Curing single-gene disorders
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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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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