Metabolic Disorders

Question 1

What two types of Metabolic Disorders are there?

Answer 1

Acquired Metabolic Disorders

Inherited Metabolic Disorders

Question 2

What is a Metabolic Disorder?

Answer 2

A BIOCHEMICAL ABNORMALITY, WHICH MAY ITSELF BE DELETERIOUS, BUT WHICH ALSO CAUSES TARGET ORGAN DAMAGE, USUALLY BY ACCUMULATION OF INJURIOUS AGENT.

Question 3

What causes an Inherited Metabolic Disorder?

Answer 3

Usually Autosomal Recessive mutation

Loss of function due to Mutation

Gene encodes enzyme in a metabolic pathway

Question 4

If there is a defective enzyme what happens to the metabolite concentrations?

Answer 4

There will be an increase increase in the non-modified metabolite.

There will be a reduction in the modified metabolite

Question 5

What is Phenylketonuria?

Answer 5

Deficiency of Phenylalanine Hydroxylase

Accumulation of Phenylalanine - leads to brain toxicity

Mental Retardation

Fair skin, Blue eyes

Question 6

How can Phenylketonuria be managed?

Answer 6

Phenylalanine free diet

Question 7

How is Phenylketonuria tested for?

Answer 7

Guthrie Test

Question 8

What are examples of acquired metabolic disorders?

Answer 8

Diabetes Mellitus

Obesity

Question 9

What are the two types of Diabetes Mellitus?

Answer 9

insulin-dependent diabetes (IDDM)

Non-insulin-dependent diabetes (NIDDM)

Question 10

What are the symptoms of IDDM Diabetes Mellitus?

Answer 10

ONSET YOUNG

WEIGHT NORMAL

REDUCED INSULIN LEVELS

ANTI-ISLET ANTIBODIES

KETOACIDOSIS

HLA LINKED

Question 11

What are the symptoms of NIIDDM Diabetes Mellitus?

Answer 11

ONSET >30

OVERWEIGHT

NORMAL OR DECREASED INSULIN

NO ISLET ANTIBODIES

NO KETOACIDOSIS

NO HLA LINKAGE

Question 12

Describe the Diabetes Pathogenesis IDDM

Answer 12

Autoreactive T Cells produces an Islet Cell Antibody

The Islet Beta Cell is attacked by the antibody

This leads to islet cell destruction

Failure to secrete insulin

Question 13

Describe the Pathogenesis NIDDM

Answer 13

Islet cells produce the normal amount of insulin

The Cells are unresponsive to the Insulin

Glucose is not absorbed

Question 14

What are the Biochemical Complications of Diabetes?

Answer 14

Ketoacidosis
Non-enzymatic Glycosylation
Hypoglycaemia
Lactic Acidosis

Question 15

What is Non-enzymatic Glycoslyation?

Answer 15

Blood sugar levels are low

The sugar sticks to the cells - this changes the stability of the protein

Question 16

What is Lactic Acidosis?

Answer 16

Low Glucose Level

Leads to a swtich from aerobic respiration of fats to anaerobic respiration of fats

Build of acid

Question 17

What is the cause of renal failure in the kidney?

Answer 17

Accumulation of abnormal proteins in the kidney glomerulus

Question 18

What are the physiological complications of diabetes?

Answer 18

Macroangiopathy
Diabetes Nephropathy
Diabetes Retinopathy
Cataracts

Question 19

What is obeisty?

Answer 19

Increased BMI >30

Question 20

What are the risk factors of Obesity? (7)

Answer 20

Hypertension
Atheroma
Diabetes
Osteoarthritis 
Gallstones 
Hypo ventilation Syndrome 
Cancer

Question 21

What regulates the basal metabolic rate?

Answer 21

The Hypothalamus