About ichthyotic neutral lipid storage disease

What is ichthyotic neutral lipid storage disease?

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).

What are the symptoms for ichthyotic neutral lipid storage disease?

Deafness symptom was found in the ichthyotic neutral lipid storage disease condition

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.

Symptoms

  • 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.


Conditions
Ichthyosis,Liver complications,Neurological deficits,Retinal dysfunction, Deafness
Drugs
NA
Symptoms
Hyperkeratosis,Mental retardation,Muscle atrophy,Partial deafness,Liver complications,Visual impairment due to cataract

What are the causes for ichthyotic neutral lipid storage disease?

Ichthyotic neutral lipid storage disease is one of the two neutral lipid storage diseases (NLSDs). Ichthyotic NLSD is also known as Chanarin Dorfman Syndrome.

  • In normal individuals, excess energy in the body is converted to triacylglycerol and stored in adipose tissues; the triacylglycerols, together with cholesteryl esters as lipid droplets.
  • During fasting, the stored triacylglycerols are released from lipid droplets into mitochondria.
  • Adipose triglyceride lipase (AGL) and the protein product of comparative gene identification-58 are the two important enzymes that allow the release.


Causes of ichthyotic NLSD.

  • It is a rare genetic disorder caused by mutations in the gene CGI-58/ABHD5.
  • The normal gene instructs the synthesis of Alpha Beta Hydrolase Domain 5 (ABHD5).
  • The protein plays the role of stimulating the enzyme AGL, which releases fatty acids from lipid reserves.
  • NLSD with myopathy affects the liver, skeletal and cardiac muscles.
  • In contrast, the ichthyotic form of NLSD affects the liver, skeletal muscle, and skin; cardiac myocytes can dissolve lipid droplets without the stimulation by ABHD5.
  • The deficiency leads to excessive accumulation of lipid droplets in the cells in the liver, skin, and muscles.
  • Consequently, it causes the characteristic symptoms of the disease.


Conditions
Ichthyosis,Liver complications,Neurological deficits,Retinal dysfunction, Deafness
Drugs
NA
Symptoms
Hyperkeratosis,Mental retardation,Muscle atrophy,Partial deafness,Liver complications,Visual impairment due to cataract

What are the treatments for ichthyotic neutral lipid storage disease?

Ichthyotic neutral liver disease is characterized by uncontrolled lipid deposition in various vital organs of the body. It is usually associated with a combination of myopathy and ichthyosis. While myopathy affects the muscle tissue, ichthyosis causes fish-like thick skin and epidermis.

Treatment

  • There is no definite treatment available for ichthyotic neutral lipid storage disease; however, there are few methods to reduce the effects of the disease. Since the disease I caused by improper fat metabolism, low-fat food is prescribed to the patients suffering from this syndrome.
  • More often, diabetes type 2 and hypothyroidism are associated with ichthyotic neutral lipid storage disease. that can also be treated effectively with dietary changes and medication.
  • Foods that are rich in triglycerides are preferred. Triglycerides are short-chained fatty acids that can reduce the effects of the ketone bodies produced in the process.
  • Ichthyosis condition can be effectively treated with moisturizers and emollients. These can reduce the dry, harsh conditions caused on the skin.
  • Apart from these, symptomatic treatments can be given for the disease to avoid serious complications.
  • Diet and lifestyle are key to managing this disease


Conditions
Ichthyosis,Liver complications,Neurological deficits,Retinal dysfunction, Deafness
Drugs
symptomatic treatments
Symptoms
Hyperkeratosis,Mental retardation,Muscle atrophy,Partial deafness,Liver complications,Visual impairment due to cataract

What are the risk factors for ichthyotic neutral lipid storage disease?

Ichthyotic neutral liver disease is characterized by uncontrolled lipid deposition in various vital organs of the body. It is usually associated with a combination of myopathy and ichthyosis. While myopathy affects the muscle tissue, ichthyosis causes fish-like thick skin and epidermis.

Treatment

  • There is no definite treatment available for ichthyotic neutral lipid storage disease; however, there are few methods to reduce the effects of the disease. Since the disease I caused by improper fat metabolism, low-fat food is prescribed to the patients suffering from this syndrome.
  • More often, diabetes type 2 and hypothyroidism are associated with ichthyotic neutral lipid storage disease. that can also be treated effectively with dietary changes and medication.
  • Foods that are rich in triglycerides are preferred. Triglycerides are short-chained fatty acids that can reduce the effects of the ketone bodies produced in the process.
  • Ichthyosis condition can be effectively treated with moisturizers and emollients. These can reduce the dry, harsh conditions caused on the skin.
  • Apart from these, symptomatic treatments can be given for the disease to avoid serious complications.
  • Diet and lifestyle are key to managing this disease


Conditions
Ichthyosis,Liver complications,Neurological deficits,Retinal dysfunction, Deafness
Drugs
symptomatic treatments
Symptoms
Hyperkeratosis,Mental retardation,Muscle atrophy,Partial deafness,Liver complications,Visual impairment due to cataract

Is there a cure/medications for ichthyotic neutral lipid storage disease?

Ichthyotic neutral liver disease/ichthyotic neutral lipid storage disease is an autosomal recessive disorder in the liver metabolism. This affects the lipid catabolism rate, which leads to excessive deposition of lipids in the vital organs of the body. It is usually associated with a combination of myopathy and ichthyosis. While myopathy affects the muscle tissue, ichthyosis causes fish-like thick skin and epidermis.

  • There is no definite treatment available for this disease; however, there are few methods to reduce the effects of the disease. Since the disease I caused by improper fat metabolism, low-fat food is prescribed to the patients suffering from this syndrome.
  • More often, diabetes type 2 and hypothyroidism are associated with ichthyotic neutral lipid storage disease. That can also be treated effectively with dietary changes and medication.
  • Foods that are rich in triglycerides are preferred.
  • Triglycerides are short-chained fatty acids that can reduce the effects of the ketone bodies produced in the process.
  • Ichthyosis condition can be effectively treated with moisturizers and emollients. These can reduce the dry, harsh conditions caused by the skin.
  • Genetic testing is recommended among the members of the family with this disease history. Genetic counseling is an important procedure to prevent the disease.


Conditions
Ichthyosis,Liver complications,Neurological deficits,Retinal dysfunction, Deafness
Drugs
symptomatic treatments
Symptoms
Hyperkeratosis,Mental retardation,Muscle atrophy,Partial deafness,Liver complications,Visual impairment due to cataract

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