DEFINITION
Fat (lipid) are an important energy source for the body.
Body fat reserves are broken down and formed continuously to balance the body's
energy in accordance with the needs of food available.
CAUSE
A group of specific enzymes help the body break down and
process the fat. Abnormalities in these enzymes can cause a buildup of certain
fatty substances which can normally be cleaved by these enzymes. Over time, the
accumulation of these substances can cause damage to many organs of the body.
The disorder caused by the accumulation of lipids called lipidosis. In
addition, there are also other enzyme disorder that causes the body can not
convert fat into energy.
SYMPTOMS
There are several diseases associated with disorders of fat
metabolism:
Gaucher Disease
The disease is caused by a buildup of glukoserebrosidase
(products of fat metabolism) in the network.
Gaucher disease is the most common lipidosis. Gaucher
disease is found in Jews of Ashkenazi (Eastern Europe).
Gaucher disease causes enlargement of the liver and spleen,
as well as the emergence of brown pigmentation in the skin. Glukoserebrosidase
accumulation in the eye causes yellow spots, called pinguecula. Accumulation in
the bone marrow can cause pain and damage to the bone.
Type I Gaucher disease, an illness in the form of chronic
and most often found. The disease causes an enlarged liver and spleen, and bone
abnormalities. Liver disorder which can be heavy, so the risk for bleeding of
the stomach and esophagus, and liver cancer. It also can happen neurological
disorders.
Gaucher disease type II, occurs in infancy. Babies with this
disease have an enlarged spleen and severe nervous system disorders. Babies
usually die within the first year after birth.
IIII Type Gaucher disease, can begin at any time in
childhood. Children with this disease have an enlarged liver and spleen, bone
abnormalities and slow progressive neurological disorder. Children who survive
to adolescence, can live for several years.
Many patients with Gaucher disease that can be treated with
enzyme replacement therapy. The most effective enzyme replacement therapy in
patients who do not have complications of the nervous system.
Tay-Sachs disease
Tay-Sachs disease causes the accumulation of ganglioside,
which is a product of the metabolism of fat, in the network. This disease is
most common in Jews of Eastern Europe original.
Children with this disease have weak muscle tone and
impaired intellectual. Stiffness occurs followed by paralysis, dementia, and
blindness. Tay-Sachs disease causing early death. Children with Tay-Sachs
disease usually die by age 3 or 4 years. This disease can not be treated or
cured.
Niemann-Pick disease
The disease is caused by a buildup of cholesterol or
sfingomyelin, which is a product of the metabolism of fat in the tissue and
cause a variety of neurological disorders.
Niemann-Pick disease possessed several forms, depending on
the severity of the enzyme deficiency that determines how much sfingomyelin or
cholesterol accumulation occurs. The most severe forms tend to occur in Jews.
Milder forms occur in all ethnic groups.
In the most severe form (Type A). Children with this disease
can not grow normally and have a variety of neurological disorders. Children
usually die by age 3 years.
Children with type B disease has grown fat on the skin,
raised areas of dark pigmentation, and enlarged liver, spleen, and lymph nodes.
These children may experience intellectual impairment.
Children with Type C disease began experiencing symptoms
when childhood, namely in the form of seizures and nerve damage.
None of Niemann-Pick disease types that can be cured.
Children tend to die from infection or progressive disorders in the central
nervous system.
Fabry Disease
Fabry disease is caused by a buildup of glycolipids, which
is a product of the metabolism of fat, in the network.
Because genes are impaired in the X chromosome, then the
overall emergence of the disease only occurs in men, which only have one X
chromosome
Accumulation of glycolipid causes benign skin growth
(angiokeratoma) on the lower body. Cornea becomes clouded, so that vision
becomes impaired. Patients may also experience recurrent episodes of fever and
pain in the limbs.
Children with Fabry disease will eventually experience
kidney failure and heart disease, even though they typically live to adulthood.
Kidney failure can cause high blood pressure, the risk for stroke.
Fabry disease can not be cured or treated directly. Usually
a drug delivery therapy to treat pain and fever or anti-seizure medications.
Patients with kidney failure may need a kidney transplant. Currently being
developed to replace the deficiency of enzyme therapy through transfusion.
Fatty Acid Oxidation Disorders
Fatty acid oxidation disorders occur due to lack of the
enzyme needed to break down fats. This disorder causes physical and mental
disorders.
Some enzymes help breakdown the fat so it can be converted
into energy. Congenital abnormality or deficiency of one of these enzymes make
the body lacks energy and causes the accumulation of certain substances. Enzyme
deficiency is the most common chain acyl-CoA dehydrogenase being.
Acyl-CoA dehydrogenase deficiency Medium Chain
This disorder is a hereditary metabolic disorders are
common, especially in people of northern Europe.
Symptoms usually appear in the first three years after
birth. Children tend to experience symptoms if they lack a source of energy
(for example, go for long periods without food) or if their calorie requirements
increase due to exercise or illness. Sugar levels in the blood drop
drastically, resulting in impaired consciousness or coma. Children become weak,
and may experience seizures. In the long run, the child may have problems in
physical and mental development, an enlarged liver, heart muscle weakness,
cardiac arrhythmia, and sudden death can occur.
Emergency treatment for these disorders is the glucose
administration by injection into a vein. For the long term, children need
frequent meals, should not pass the time eating, and eating foods high in
carbohydrates and low in fat. Long-term outcome is usually good.
REFERENCE
- S, Lee M. Disorders of Lipid Metabolism. Merck Manual Home
Health Handbook. 2009.
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