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Lipid mechanism disorders
1.
Medical AcademyNamed After
S.I.Georgievsky
Vernadsky CFU
NAME: RAVI KUMAR NISHAD & AMET VIKRAM TRIPATHI
GROUP: LA1 202(2)
TOPIC: LIPID METABOLISM DISORDERS
TEACHERS NAME : MAM SVETLANA SMIRNOVA
2.
Introduction – Lipid metabolismdisorders
Lipid metabolism disorders such as Gaucher disease and Tay-Sachs
disease, involve lipids. Lipids are fats or fat like substances. They
include oils, fatty acids ,waxes and cholesterol. If a person have
these disorders than he/she might not have enough enzymes to
break down lipids.
3.
1.Niemann’s disease –Peak’sdisease
Peak disease is a rare condition that causes progressive and
irreversible dementia. This disease is one of many types of dementias
known as frintitemporal dementia. Frontitemporal dementia is a
result of a brain condition known as frontitemporal lobar
degeneration. If a person have dementia, his brain doesn’t
functions normally. As a result,he may have difficulty with language,
behaviour,thinking, judgement and memory.
4.
Symptoms of peak’s diseaseA person having peak disease will show symptoms progressively
worse over time. Many of the symptoms can make social interaction
difficult. For example, behavioural changes may make it hard to
conduct yourself in a society acceptable manner. Behaviour and
personality changes are the most significant early symptoms of picks
disease.
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6.
Causes of pick’s diseasePicks disease, along with other FTDs, is caused by abnormal amounts
or types of nerve cells , proteins, called tau.
These proteins are found in all of your nerve cells. If a person have
picks disease, they often accumulate into spherical clumps, known
as Pick bodies or Pick cells. When they accumulate in the nerve cells
of brain’s frontal and temporal lobe,they cause the cells to die. This
causes brain tissues to shrink,leading to the symptoms of dementia.
7.
Diagnosis of Pick’s diseaseThere are no single diagnostic tests that a doctor can use to learn if
a person have picks disease. He will use the medical history, special
imaging tests, and other tools to develop a diagnosis.
For example:
Take a complete medical history.
Ask you to complete speech and writing tests.
Conduct interviews with the patients family members to learn about
the behaviour of patient.
Etc…
8.
Treatment of Pick’s diseaseThere are no known treatments that effectively slow the progression
of Pick’s disease. Your doctor can prescribe treatments to help ease
of some of yours symptoms.
Fir example, they may prescribe antidepressant and antipsychotic
medications to help behavioural changes.
9.
2.Gaucher’s diseaseGaucher (go-SHAY) disease is the result of a buildup of certain fatty
substances in certain organs, particularly your spleen and liver. This
causes these organs to enlarge and can affect their function. The
fatty substances also can buildup in bone tissues,weakening the
bones and increasing the risk of fractures.
10.
Symptoms of Gaucher’s diseaseThere are different types of Gaucher’s disease and signs and
symptoms vary widely. Sone common symptoms are:
Abdominal complaints:because the liver and especially the spleen
can enlarge,dramatically,the abdomen can become painfully
distended.
Skeletal abnormalities:Gaucher’s diseases can weaken bone,
increasing the risk of painful fractures. It can also interfere with the
blood supply to the bones, which can cause portions of the bone to
die.
Blood disorders: A decrease in healthy red blood cells (anemia) can
result in severe fatigue. Gaucher’s disease also affects the cells
responsible for clotting,which can cause a messy bruising and
nosebleeds.
11.
12.
Causes of Gaucher’s diseaseGaucher disease is passed along in an inheritance pattern called
autosomal recessive.
Both patents must be carriers of Gaucher (mutated) gene for their
child to inherit the condition.
13.
Diagnosis of Gaucher’s diseaseEnzyme test for Gaucher’s disease:
An enzyme test called the beta-glucosidase leukocyte (BGL) test is
the main tool that physicians use to diagnose Gaucher’s disease.
This is because all patients with Gaucher’s disease will have low
enzyme activity levels. Physicians can measure enzyme activity with
a standard blood test.
14.
Treatment of Gaucher’s diseaseGaucher’s disease has no cure.
Treatment options for types 1and 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