Ifeanyi merit chioma\dharavath baskar

1. Ifeanyi merit chioma\dharavath baskar LA1 201(2)

IFEANYI MERIT
CHIOMA\DHARAVATH
BASKAR LA1 201(2)

2. LIPID METABOLISM DISORDERS

Lipid metabolism disorders, such as Gaucher disease and TaySachs disease, involve lipids. Lipids are fats or fat-like substances.
They include oils, fatty acids, waxes, and cholesterol. If you have
one of these disorders, you may not have enough enzymes to
break down lipids.

3. NIMEMANN’S DISEASE-PEAK DISEASE

Niemann-Pick is a rare, inherited disease that affects the body's
ability to metabolize fat (cholesterol and lipids) within cells. These
cells malfunction and, over time, die. Niemann-Pick disease can
affect the brain, nerves, liver, spleen, bone marrow and, in severe
Niemann–Pick diseases are a subgroup of lipid storage disorders
called sphingolipidoses in which harmful quantities of fatty
substances, or lipids, accumulate in the spleen, liver, lungs, bone
marrow, and brain. In the classic infantile type-A variant, a
missense mutation causes complete deficiency of
sphingomyelinase.ses, lungs.

4. How common is Niemann Pick disease

HOW COMMON IS NIEMANN PICK DISEASE
Frequency. Niemann-Pick disease types A and B is estimated to
affect 1 in 250,000 individuals. Niemann-Pick disease type A
occurs more frequently among individuals of Ashkenazi (eastern
and central European) Jewish descent than in the general

5. What are the symptoms of Pick's disease

WHAT ARE THE SYMPTOMS OF PICK'S
DISEASE
abrupt mood changes.
compulsive or inappropriate behavior.
depression-like symptoms, such as disinterest in daily activities.
withdrawal from social interaction.
difficulty keeping a job.
poor social skills.
poor personal hygiene.
repetitive behavior.

6. GAUCHER’S DISEASE

Gaucher (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 build up in bone tissue,
weakening the bone and increasing the risk of fractures.

7. Symptoms of Gaucher disease can include:

SYMPTOMS OF GAUCHER DISEASE
CAN INCLUDE:
Enlarged spleen.
Enlarged liver.
Eye movement disorders.
Yellow spots in the eyes.
Not having enough healthy red blood cells (anemia)
Extreme tiredness (fatigue)
Bruising.
Lung problems.

8. DISORDERS OF CARBOHYDRATE METABOLISM

Disorders of carbohydrate metabolism occur in many forms. The
most common disorders are acquired. Acquired or secondary
derangements in carbohydrate metabolism, such as diabetic
ketoacidosis, hyperosmolar coma, and hypoglycemia, all affect
the central nervous system.

9. Symptoms may include

SYMPTOMS MAY INCLUDE
failure to gain weight satisfactorily,
vomiting,
hypoglycemia,
liver dysfunction and
kidney defects

10. Examples include:

EXAMPLES INCLUDE:
Familial hypercholesterolemia.
Gaucher disease.
Hunter syndrome.
Krabbe disease.
Maple syrup urine disease.
Metachromatic leukodystrophy.
Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes
(MELAS)
Niemann-Pick.

11. GALACTOSEMIA

Galactosemia, which means “galactose in the blood,” refers to a
group of inherited disorders that impair the body's ability to
process and produce energy from a sugar called galactose.
When people with galactosemia injest foods or liquids containing
galactose, undigested sugars build up in the blood

12. Symptoms of galactosemia are:

SYMPTOMS OF GALACTOSEMIA ARE:
Convulsions.
Irritability.
Lethargy.
Poor feeding -- baby refuses to eat formula containing milk.
Poor weight gain.
Yellow skin and whites of the eyes (jaundice)
Vomiting.

13. EXAMPLES

Patients with classic galactosemia are sometimes described as
having the genetic makeup "G/G." When a person who does not
have galactosemia consumes food containing lactose (e.g.,
dairy products such as milk, cheese, butter), their body breaks
down the lactose into galactose and glucose, and then further
metabolizes ...

14. FRUCTOSE

Fructose, or fruit sugar, is a simple ketonic monosaccharide found
in many plants, where it is often bonded to glucose to form the
disaccharide sucrose. It is one of the three dietary
monosaccharides, along with glucose and galactose, that are
absorbed directly into blood during digestion.

15. Here is a list popular foods that often contain high-fructose corn syrup.

HERE IS A LIST POPULAR FOODS THAT
OFTEN CONTAIN HIGH-FRUCTOSE CORN
SYRUP.
Soda.
Candy.
Sweetened Yogurt.
Salad Dressing.
Frozen Junk Foods.
Breads.
Canned Fruit.
Juice.
Ice cream
Jelly\gam
Coffe cream