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Dorfman-Chanarin syndrome; triglyceride storage disease with impaired long-chain fatty acid oxidation; neutral-lipid-storage disease with ichthyosis
Epidemiology: rare
Pathology:
- intracellular accumulation of triacylglycerol droplets in many types of tissues
- liver steatosis with hepatomegaly (variable)
Genetics:
- autosomal recessive
- associated with defects in ABHD5 gene
Clinical manifestations:
1) non-bullous congenital ichtyosiform erythroderma
2) phenotype involves multiple organs and systems
3) ichthyosis is always present
4) variably present
- muscle weakness (or myopathy)
- ataxia
- neurosensory hearing loss
- subcapsular cataracts
- nystagmus, strabismus
- mental retardation
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
syndrome
Database Correlations
OMIM 275630
References
OMIM :accession 275630