Neutral lipid storage disease with icthyosis (NLSDI)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Neutral lipid storage disease with icthyosis (NLSDI). This is caused by mutations in the CGI58 (ABHD5) gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CGI58 (ABHD5) gene
- The mutations activate PNLP2A
- The transmission is autosomal recessive
Clinical features
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Blood tests
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Other investigations
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Synonym
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