Ichthyotic Neutral Lipid Storage Disease (NLSDI) is a rare autosomal genetic disorder caused by excessive accumulation of lipid in body tissues. The human body stores surplus energy, in the form of triacylglycerols, primarily in adipose tissues; However, every tissue stores lipid droplets.
The enzyme adipose triglyceride lipase (ATGL) releases triglycerides from the lipid droplets, for energy. However, ATGL is stimulated by Alpha-Beta hydrolase domain 5 (ABHD 5), the product of the gene CGI-58. Mutations to this gene cause deficiency of the lipase, leading to the disorder.
- The patients suffer from congenital ichthyosiform erythroderma; the affected infants are born with a shiny, and waxy outer layer called collodion membrane over the skin. Over time, the membrane sheds, leaving skin red with white scales.
- The affected individuals later develop hyperkeratosis on palms, soles, and skin over joints.
- 80 % of the patients present liver complications ranging from hepatomegaly to cirrhosis.
- 30 % of the affected suffer sensorineural hearing loss.
- Some patients may develop cataracts causing visual defects
- Cardiac abnormalities begin in the 30s, and 40% of patients suffer skeletal muscle abnormalities.
- Patients also show neurological abnormalities such as mental retardation, proximal muscle Weakness, and psychiatric disorders.
Ichthyosis,Liver complications,Neurological deficits,Retinal dysfunction, Deafness
Hyperkeratosis,Mental retardation,Muscle atrophy,Partial deafness,Liver complications,Visual impairment due to cataract