Life Sciences Glossary: Metabolic Disorders and Other Non-Communicable Disease

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Other Genetic Diseases in Man


  • Alkaptonria was discovered by Archibald Jarrod in 1902.
  • Jarrod was known as ‘Father of Physiological Genetics’ or ‘Father of Biochemical Genetics’ .
  • Patients of alkaptonuria excrete large amounts of homogentisic acid urine. Such urine turns black upon exposure to light.
  • In normal person, homogentisic acid (alkapton) is oxidized by a liver enzyme, homogentisic acid oxidase to melee acetoacetic acid.
  • Alkaptonuria was the first of the recessive human trains discovered.

Phenylketonuria (PKU)

  • Phenylketonuria was discovered by the Norwegian physician A. Falling in 1934.
  • PKU results when there is a deficiency of the liver enzyme that converts phenylalanine into tyrosine.
  • PKU patients who are homozygous recessive lack the enzyme phenylalanine hydroxylase.
  • PKU patients who are homozygous recessive lack the enzyme phenylalanine hydroxylase.
  • There is a high level of phenylalanine in their blood and tissue fluids.
  • Increased phenylalanine in the blood interferes with brain development; the muscles and cartilages of the legs may be defective, and the patients cannot walk properly.

Gautier՚s Disease

  • Gautier՚s disease is a genetic disease associated with abnormal fat metabolism.
  • It is caused by the absence of the enzyme glucocerebrosidase required for proper processing of lipids.
  • Non- processing of lipids results in accumulation of fatty material in spleen, liver, bone marrow and brain.
  • The swelling of all these organs occurs and patients usually die the age of 15 years.


  • Galactosemia in man is inherited as an autosomal recessive, and the affected person is unable to convert GA lactose to glucose.
  • This disease is due to the deficiency of the enzyme GA lactose phosphate luridly transferees (GPT) .
  • Milk is toxic to galactosemic infants; child usually dies at three years of age.

Taste Blindness of PTC

  • It is a genetic trait, not a disease, discovered by Fox in 1932.
  • PTC (Phenyl this carbide) IA a compound of nitrogen, carbon and Sulphur with sour taster.
  • About 30 % people lack the ability to taste PTC which is transmitted by a dominant gene T.
  • The genotypes TT and Tat are tasters of PTC, while tot are non- taters or tasty blind persons.

Metabolic Disorders and Other Non- Communicable Disease

The main non- communicable diseases are diabetes, inflammatory diseases of joints such as arthritis, gout, cardiovascular diseases and cancer.

Diabetes Mellitus

  • Diabetes is characterized by chronic hyperglycemia which is excessive concentration of glucose in the blood.
  • Diabetes is primarily a result of relative or complete lack of insulin secretion by the ceils of islets of Langerhans in pancreas.
  • Diabetes is estimated by blood and urine sugar levels.


  • Arthritis is any inflammatory condition of the joints characterized by pain and swelling.
  • Two kinds of arthritis are: rheumatoid arthritis and osteon arthritis.
  • There is no cure for arthritis; however, drugs are available which relieve pain.
  • Rheumatoid arthritis is characterized by inflammation of the synovial membrane.
  • A kind of rheumatoid arthritis that occurs in younger people is Still՚s disease.
  • Osteon arthritis is a disease common among the elderly persons resulting from erosion of articular cartilage.
  • Paraplegia refers to weakness or paralysis of both legs, often accompanied by loss of sensation.
  • Paraplegia is usually caused by a motor vehicle accident, sports accident, and fall or gunshot wounds.


  • Gout results from accumulation of uric acid crystals in the synovial joints.
  • Gout is a disease associated with an inborn error of uric acid metabolism that increases production or interferes with the excretion of uric acid.

Cardiovascular Diseases

  • Cardiovascular diseases refer to number of diseases associated with the blood vascular system.
  • Some major cardiovascular disease are rheumatic heart disease, hypertensive heart disease and coronary heart disease.

Rheumatic Heart Disease

  • Rheumatic heart disease is an auto immune disease, most common in children after a severe throat infection by certain strain of Streptococcus bacteria.
  • An antigen on the surface of these bacteria is very similar to an antigen on the surface myocardium.
  • The antibodies against Stertorous may react with myocardium and cause heart difficulties.

Hyper Tensile Heart Disease

  • Hyper tensile heart disease are caused by hypertension, i.e.. increased blood pressure.
  • Serious hypertension is a common cause of chronic heart failure particularly in older people.

Coronary Heart Disease

  • Coronary heart diseases are characterized by impaired heart function due to inadequate blood flow to the heart.
  • Angina pectoris is the chest pain caused most often by myocardial anoxia.
  • Attacks of angina pectoris are often related to exertion, emotional disturbance and exposure to excess cold.
  • Myocardial infarction is commonly called coronary or heart attack.
  • Arteriosclerosis is the hardening of arteries due to deposition of cholesterol on arterial wall.
  • Coronary heart disease may be due to raised serum cholesterol, cigarette, smoking, high blood pressure, physical inactivity, obesity and diabetes.
  • Cyanosis refers to a bluish coloration of the skin and mucous membranes due to too much deoxygenated hemoglobin in the blood.
  • Cyanosis commonly can be noticed in fingernails, toenails and lips.
  • Irrational fear of disease is called path phobia.

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