PHGDH/PSAT1/PSPH-sEDD
Previously: Neu Laxova syndrome
Key Clinical Clues
Generalized scaling.
Additional Extracutaneous Features
Neuroectodermal defects, microcephaly, CNS anomalies (lissencephaly, cerebellar hypoplasia, agenesis of corpus callosum), nystagmus, neuropathy, limb deformities, hypoplastic lungs, oedema, abnormal facial features (proptosis, ectropion, hypertelorism, micrognathia, malformed ears). Early lethality.
Treatment
High-dose oral L-serine (and glycine) (Debs, 2021).
References
Debs S, Ferreira CR, Groden C et al. Adult diagnosis of congenital serine biosynthesis defect: a treatable cause of progressive neuropathy. Am J Med Genet A. 2021; 185:2102-7. || Takeichi T, Okuno Y, Kawamoto A et al. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. J Lipid Res 2018; 59:2413-20. || Bourgon N, Chen R, Grange G et al. Neu Laxova syndrome and megacystis in the first trimester: broadening the fetal phenotype. Prenat Diagn 2023; 43:1666-70. || Jain PV, Maxey J, Lawlor MW, Parsons LN. Putting it all together: postmortem diagnosis of a rare ichthyosis syndrome. Cureus 2023; 15:e38787. || Acuna-Hidalgo R. Schanze D, Kariminejad A et al. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet 2014; 95:285-93. || Shen Y, Peng Y, Huang P et al. Juvenile-onset PSAT1-related neuropathy: a milder phenotype of serine deficiency disorder. Front Genet 2022; 13:949038.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
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