Neutral lipid storage disease with icthyosis (NLSDI)

Evidence-based neurology checklist on neutral lipid storage disease with icthyosis (nlsdi): Genetics This is caused by mutations in the CGI58 (ABHD5) gene The mutations activate PNLP2A The transmission is autosomal recessive Clinical features Blood tests Other investigations Synonym

Genetics

  • This is caused by mutations in the CGI58 (ABHD5) gene
  • The mutations activate PNLP2A
  • The transmission is autosomal recessive

Clinical features

Blood tests

Other investigations

Synonym

References

  1. Pennisi EM, Arca M, Bertini E, et al; Italian NLSD Group. Neutral lipid storage diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis 2017; 12:90.

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