Metabolic Disorders Flashcards
What two types of Metabolic Disorders are there?
Acquired Metabolic Disorders
Inherited Metabolic Disorders
What is a Metabolic Disorder?
A BIOCHEMICAL ABNORMALITY, WHICH MAY ITSELF BE DELETERIOUS, BUT WHICH ALSO CAUSES TARGET ORGAN DAMAGE, USUALLY BY ACCUMULATION OF INJURIOUS AGENT.
What causes an Inherited Metabolic Disorder?
Usually Autosomal Recessive mutation
Loss of function due to Mutation
Gene encodes enzyme in a metabolic pathway
If there is a defective enzyme what happens to the metabolite concentrations?
There will be an increase increase in the non-modified metabolite.
There will be a reduction in the modified metabolite
What is Phenylketonuria?
Deficiency of Phenylalanine Hydroxylase
Accumulation of Phenylalanine - leads to brain toxicity
Mental Retardation
Fair skin, Blue eyes
How can Phenylketonuria be managed?
Phenylalanine free diet
How is Phenylketonuria tested for?
Guthrie Test
What are examples of acquired metabolic disorders?
Diabetes Mellitus
Obesity
What are the two types of Diabetes Mellitus?
insulin-dependent diabetes (IDDM)
Non-insulin-dependent diabetes (NIDDM)
What are the symptoms of IDDM Diabetes Mellitus?
ONSET YOUNG
WEIGHT NORMAL
REDUCED INSULIN LEVELS
ANTI-ISLET ANTIBODIES
KETOACIDOSIS
HLA LINKED
What are the symptoms of NIIDDM Diabetes Mellitus?
ONSET >30
OVERWEIGHT
NORMAL OR DECREASED INSULIN
NO ISLET ANTIBODIES
NO KETOACIDOSIS
NO HLA LINKAGE
Describe the Diabetes Pathogenesis IDDM
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
Describe the Pathogenesis NIDDM
Islet cells produce the normal amount of insulin
The Cells are unresponsive to the Insulin
Glucose is not absorbed
What are the Biochemical Complications of Diabetes?
Ketoacidosis
Non-enzymatic Glycosylation
Hypoglycaemia
Lactic Acidosis
What is Non-enzymatic Glycoslyation?
Blood sugar levels are low
The sugar sticks to the cells - this changes the stability of the protein
What is Lactic Acidosis?
Low Glucose Level
Leads to a swtich from aerobic respiration of fats to anaerobic respiration of fats
Build of acid
What is the cause of renal failure in the kidney?
Accumulation of abnormal proteins in the kidney glomerulus
What are the physiological complications of diabetes?
Macroangiopathy
Diabetes Nephropathy
Diabetes Retinopathy
Cataracts
What is obeisty?
Increased BMI >30
What are the risk factors of Obesity? (7)
Hypertension Atheroma Diabetes Osteoarthritis Gallstones Hypo ventilation Syndrome Cancer
What regulates the basal metabolic rate?
The Hypothalamus
