Presentation (9).pdf metabolic disorders

Metabolic disorders

1. Biochemistry
UQBAEMAN
MIT-2

2. Metabolic disorders

3. Define metabolic disorder
Metabolic disorders is a Condition Where the body’s
normal reaction are disrupted.
MetaboliMetabolismconvert food into energy and
essential substances .
Disrupted mean too much or too Little of vital
component.

4. Key causes
Genetic defects: inherited mutations to missing
or faulty enzymes.
Organ dysfunction: organ like pancreas and liver
does not work properly.
Lifestyle function: poor diet , lack of exercise
and obesity .
Mitochondria dysfunction: issues with cellular
energy production.

5. Common effects and symptoms:
Fatigue, unexplained weight loss.
Digestive issues ( vomiting , nausea)
Muscles weakness
Organ damage
Neurological problems

6. Disorders

7. Type 2 diabetes mellitus
Definition: High blood sugar level
due to insulin resistance or
insufficient insulin production.
Causes: Genetics
insulin resistance
Impaired insulin
Obesity and physical
inactivity
Age

8. Effects :
Increased thirsty/ urination
Fatigue
Long term complications like heart disease
Kidney failure
Nerve damage
Vision loss

9. Metabolic syndrome
Define : A cluster of conditions
( high blood pressure, high
blood sugar, Abnormal
obesity, Abnormal
cholesterol) increasing risk Of
heart disease, stroke and
type-2 diabetes.
Causes: insulin, resistance,
obesity and sedentary lifestyle.
Effect: Generally high risk of
cardiovascular events and
developing type2 diabetes.

10. Phenylketonuria ( pku)
Define: inability to break
down phenylalanine.
Cause: Genetic mutation
Effect: it untreated serve
disability and brain damage,
managed with strict diet.

11. Gaucher’ s disease
Define: Accumulation of fatty substance in organs due to
enzyme deficiency.
Cause: Genetic mutation
Effect: Enlarged spleenliver, bone pain , fractures , blood
disorders .

13. Mitochondrial disorders
Define: cells fail to produce enough
energy.
Cause: Genetic mutation affect
mitochondria
Effects : Highly variable , can effect
muscles, heart , brain , eyes and
other organs , leading to weakness
and neurological issues and organ
dysfunction.

14. Conclusion
Metabolic disorders are diverse, with varied cause and
effects.
Early diagnosis and appropriate management ( diet ,
medication, lifestyle) are crucial for minimizing
complications and improving quality of life.

15. Thank you