Phosphoserine phosphatase deficiency
Definition:
Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome, and in whom compound heterozygous mutation was later identified in PSPH gene. PSPH is the enzyme catalyzing the final and irreversible step of L-serine synthesis from the glycolytic intermediate, 3-phosphoglycerate.
References:
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[1]. J B Vincent, et al. Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. Clin Genet. 2015 Mar;87(3):296-8. [Content Brief]
[2]. J Jaeken, et al. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Med Genet. 1997 Jul;34(7):594-6. [Content Brief]
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