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Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2023

Fu Junyi, Chen Liqing, Su Tangfeng, Xu Sanqing, Liu Yan

Abstract excerpt

Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disease of serine biosynthesis. Its typical features are congenital microcephaly, epileptic seizures, and psychomotor developmental delay. Here, we reported the first Chinese familial cases with genetically confirmed PHGDH deficiency and reviewed several previous reports. Two siblings in this family presented with...

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PMID: 36308023
DOI: 10.1002/jdn.10236

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