Serine deficiency syndrome

Deficiency types

• Phosphoglycerate dehydrogenase (PGDH) deficiency
• Phosphoserine phosphatase (PSAT) deficiency
• Phosphoserine phosphatase (PSP) deficiency

Neurological features

Neu-Laxova syndrome: features

Systemic features

Cerebrospinal fluid (CSF) analysis

Magnetic resonance studies (MRI) brain

Amino acid replacement therapy

References

1. El-Hattab AW, Shaheen R, Hertecant J, et al. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis 2016; 39:373-381. 
2. de Koning TJ, Poll-The BT, Jaeken J. Continuing education in neurometabolic disorders-serine deficiency disorders. Neuropediatrics 1999; 30:1-4. 
3. Coşkun T, Aydin HI, Kiliç M, et al. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. Turk J Pediatr 2009; 51:587-592.
4. Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 1996; 74:542-545.
5. Méneret A, Wiame E, Marelli C, Lenglet T, Van Schaftingen E, Sedel F. A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy. Arch Neurol 2012; 69:908-911.
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