Remedios Trinidad Romualdez Medical Foundation

College of Nursing
Tacloban City

Name: Jo Marchianne G. Pigar Section: BSN – 1D Date: September 27, 2018

LIPID METABOLISM

A. Summary
Metabolism is the process your body uses to make energy from the food you eat. Food is made
up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the
food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or
it can store the energy in your body tissues. If you have a metabolic disorder, something goes
wrong with this process.
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have
it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a
fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This
prevents these organs from working properly.
There are three types:
 Type 1, the most common form, causes liver and spleen enlargement, bone pain and
broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It
can occur at any age.
 Type 2, which causes severe brain damage, appears in infants. Most children who have it
die by age 2.
 In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It
usually starts in childhood or adolescence.
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme
replacement therapy, which is usually very effective. There is no good treatment for the brain
damage of types 2 and 3.
B. Identify the function and the uses of the protein
Lipid metabolism is the synthesis and degradation of lipids in cells, involving the break down or
storage of fats for energy. These fats are obtained from consuming food and absorbing them or
they are synthesized by an animal's liver. Lipogenesis is the process of synthesizing these fats. The
majority of lipids found in the human body from ingesting food are triglycerides and cholesterol.
Other types of lipids found in the body are fatty acids and membrane Lipids. Lipid metabolism is
 often considered the digestion and absorption process of dietary fat; however, there are two ways
organisms can use fats to obtain energy: consumed dietary fats and storage fat. Vertebrates and
humans use both methods of fat usage as their sources of energy for organs such as the heart to
function. Since lipids are hydrophobic molecules, they need to be solubilized before their
metabolism begin. Lipid metabolism often begins with hydrolysis, which occurs with the help of
various enzymes in the digestive system. Lipid metabolism does exist in plants, though the
processes differ in some ways when compared to animals. The second step after the hydrolysis is
the absorption of the fatty acids into the epithelial cells of the intestinal wall. In the epithelial
cells, fatty acids are packaged and transported to the rest of the body.
C. Identify its uses in biochemistry and to your course
Lipids have a wide variety of roles in biochemistry and in nursing. These roles are a consequence
of their chemical and physical properties. Fatty acids and their derivatives (especially
triacylglycerol) can act as highly concentrated energy storage molecules. The high energy density
of fat stores is due to three main factors.
 The completely reduced carbons of fatty acids have a higher energy content than the
partially oxidized carbons of carbohydrates and proteins.
 The fortuitous fact that the reduced carbons have covalent bonds to light atoms
(hydrogen rather than to the heavier oxygen) means that the fully reduced hydrocarbon
compounds are lighter than the partially oxidized carbohydrates.
 Lipids are hydrophobic molecules and therefore fat stores contain little water, which
would add to the weight of the molecules without adding to the energy content.
Because layers of lipids are good insulators, and because adipose tissue has limited metabolic
activity, fat stores can reduce the exchange of heat between an organism and its environment.
This insulation is important for nurses, and is especially important for the patients, which would
otherwise rapidly lose their body heat to the cold environment.
As we have already seen, membranes are composed of fatty acid derivatives. These compounds
form hydrophobic barriers that separate cells from their surroundings and which subdivide cells
into multiple compartments that allow more finely tuned control of metabolism. Lipids are also
used as signaling molecules, such as prostaglandins and steroids, and as enzyme cofactors.
D. Identify the Etiology
Gaucher's disease results from a hereditary enzyme deficiency. It can lead to a range of symptoms,
including a swollen abdomen, anemia, and a susceptibility to bruising.
E. Cause
Gaucher's disease happens because of a recessive mutation in a gene called GBA. GBA is located
on chromosome 1. Humans normally have two copies of the genes that tell the body to produce
the enzyme glucocerebrosidase, and both copies work correctly. If one copy is faulty, the person
will not develop Gaucher's disease, because just one functioning gene can produce enough of the
enzyme.
The person with one faulty gene will not get sick, but they will be a carrier. They can pass on the
gene. If both parents are carriers, a child will have a:
 25 percent chance of inheriting two faulty genes and having Gaucher's disease
 50 percent risk of inheriting one faulty gene and being a carrier
 25 percent chance of inheriting no faulty genes and neither having Gaucher's disease nor
being a carrier
A carrier can pass on the gene but not necessarily the disease.
F. Manifestation
If signs and symptoms suggest that Gaucher's disease may be present, or if there is a family
history, the doctor will refer the individual to a genetic specialist. Genetic testing can help to
confirm a diagnosis. Blood tests can identify low levels of glucocerebrosidase. Genetic testing
looks for the four most common genetic mutations, N370S, L444P, 84gg and IVS2[+1], and some
less common ones. This test is not completely reliable because the whole range genetic mutations
that may be linked with Gaucher's disease are not yet known. Genetic testing for these four
mutations is between 90 and 95 percent accurate in diagnosing Gaucher's disease in the
Ashkenazi Jewish population, and 50 percent to 60 percent accurate in the general population.
Genetic testing combined with the enzyme test helps diagnose Gaucher's disease accurately. If a
woman with one faulty gene becomes pregnant, prenatal screening can help predict whether the
fetus is likely to have the condition.
 Amniocentesis tests the cells in the amniotic fluid
 Chorionic villus sampling (CVS) tests tissue from the placenta
Genetic testing before conception can predict a couple's chances of having a child with Gaucher's
disease. Those with a family history of the condition and those of Ashkenazi Jewish descent may
wish to ask about genetic counseling.
G. Management
There is no cure for Gaucher's disease, but treatment can help decrease symptoms and improve
quality of life. For patients with type 2 Gaucher's disease, enzyme replacement therapy is
 available, but there is no effective treatment for the severe brain damage that is likely to occur.
Some patients with mild type 1 may not need treatment, but they should be periodically
monitored. For patients with type 1 or 3 Gaucher's disease, a number of therapies may help.
H. Conclusion
Glucocerebrosidase breaks down a type of fat, or lipid, known as glucosylceramide, or
glucocerebroside, into sugar and simple fats to be used for energy. There is no cure for such
disease but some therapies may help to improve the quality of life. Therefore, an early diagnosis
and prompt treatment will improve the outlook for people with Gaucher's.
I. Recommendation
Scientists should have a nonstop experiment to find a cure for those who have Gaucher’s disease.
But if there is really no cure for such disease, they should find a better and improved therapy to
prolonged the life of those people.