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In addition to a minimal overall intake of protein, carbohydrates, and lipids, there are eight
essential amino acids that are necessary in the human diet. These are: tryptophan, lysine, phenylalanine,
leucine, isoleucine, threonine, methionine and valine. There are also three
essential fatty acids: arachidonic, linoleic and linolenic. Some of the major diseases resulting from
imbalance of these essential nutrients are described below.
A. Protein-Energy Malnutrition
Protein-energy malnutrition is currently an important cause of child death in many parts of the world.
The two main clinical syndromes are kwashiorkor and nutritional marasmus.
1. Kwashiorkor
Kwashiorkor results from a dietary deficiency of protein, usually in the presence of
an adequate caloric intake.
a. Occurrence:
1) Mainly in children 1 to 3 years of age
2) Common in many underdeveloped countries and in poverty stricken areas of
developed countries
3) Most prevalent during the weaning period when the child's diet changes from
maternal milk to primarily carbohydrates
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Clinical Manifestations:
1) Growth failure
2) Edema
3) Hepatomegaly (liver enlargement)
4) Anemia
5) Hair changes - changes in texture, color, strength
6) Dermatoses - wax paper-type desquamation, depigmentation and
hyperpigmentation
7) Apathy, anorexia (loss of appetite), listlessness
8) Impaired intelligence
c. Histopathology
1) Atrophy of the mucosa of the small bowel
2) Erythroid hypoplasia in the bone marrow
3) Decrease in number of lymphocytes
4) Fatty change of the liver
2. Nutritional marasmus
Marasmus is a state of malnutrition resulting from a deficiency of total calories.
a. Occurrence
1) Common in nearly all underdeveloped countries
2) Common in children under 1 year of age
3) May occur secondary to such diseases as hepatic fibrosis, celiac disease or
overwhelming infection
b. Clinical Manifestations
1) Growth failure
2) Wasting - little or no subcutaneous fat, loss of muscle
3) Growth retardation
4) Ravenous appetite
5) Alert mental state
6) Many of the manifestations of kwashiorkor except edema
c. Histopathology
1) Erythroid hypoplasia of the bone marrow
3. Marasmus-Kwashiorkor
Kwashiorkor and marasmus can be regarded as two extremes of protein-calorie
malnutrition; most cases of protein-calorie malnutrition, however, are intermediate
between the two. These patients usually manifest other deficiencies as well,
particularly of dietary vitamins and manganese.
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II.
VITAMIN IMBALANCES
Vitamins are chemically unrelated organic substances that are required for specific metabolic
reactions; they are not adequately synthesized by the individual and are therefore
essential in the diet in minute amounts.
Traditionally vitamins are classified according to their solubility in water or fat and
physiologically this property determines their patterns of transport, excretion and storage.
A large number of the vitamins form specific coenzymes.
At the present time it is difficult to precisely correlate the biochemical and physiological
functions of individual vitamins with the clinical manifestations of their deficiencies.
A. Water Soluble Vitamins
This group of vitamins is rapidly and readily absorbed from the alimentary canal. Figure
1 shows some of the key roles vitamins play as catalysts in the metabolism of
carbohydrates, fats and proteins. The more important ones, described below, are marked
with an asterisk(*).
*1. Vitamin B1 (Thiamine)
a. Chemistry and Biochemical Function. Thiamine is part of the coenzyme, thiamine
pyrophosphate (TPP), which is an important factor in carbohydrate metabolism.
1) TTP has three important functions: (a) regulates oxidative decarboyxlation of
pyruvate and a-ketoglutrate leading to synthesis of ATP (Fig. 1); (b) involved
in glucose oxidation (pentose phosphate pathway); (c) maintains neural
membranes and normal nerve conduction (chiefly of peripheral nerves).
2) Thus, the organ systems most severely affected by thiamine deficiency are
those most dependent upon carbohydrate metabolism (i.e. the heart and
nervous system).
b. Pathology of Thiamine Deficiency. Thiamine deficiency is widespread in the
orient where the diet of the population consists largely of polished or refined rice.
It is also associated with chronic alcoholism. The best documented thiamine
deficiency state is beriberi. Beriberi in Singhalese means "weakness". The changes
occurring in beriberi are, for the most part, confined to the heart and nervous
system. Beriberi can be divided into several syndromes:
1) Wet Beriberi (Acute)
a) Principally characterized by chronic heart failure; the heart is flabby and
dilated
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ii.
iii.
iv.
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4. Pyridoxine (B6)
a. Chemistry and Biochemical functions. Pyridoxine is the accepted name of a group
of three closely related compounds which are converted in the body to the
coenzyme pyridoxal phosphate, whose major function is amino acid or protein
metabolism (Fig. 1), and which is also a cofactor in the production of the
inhibitory amine, a-amino butyric acid.
b. Pyridoxine deficiency.
1) Biochemical evidence of pyridoxine deficiency occurs in uremia and cirrhosis.
It can also occur with pharmacologic agents such as penicillamine. A
significant percentage of women using oral contraceptives have altered
pyridoxine metabolism.
2) The most common cutaneous sign of pyridoxine deficiency is a dermatitis of
the face, scalp, neck and shoulders. Central nervous system alterations such
as somnolence and confusion occur commonly. Pyridoxine deficiency is also
common in chronic alcoholics.
5. Pantothenic acid (B5)
a. Chemistry and Biochemical functions. Pantothenic acid is a component of
coenzyme A (CoA). Pantetheine, a derivative of pantothenic acid, is the
functional unit of coenzyme A and plays a vital role in numerous metabolic
processes.
b. Deficiency of Pantothenic Acid. Though pantothenic acid is of physiological
importance, evidence for lesions in man from deficiency of this vitamin are
inconclusive. The "Burning Feet" syndrome, consisting of severe paresthesias and
tenderness of the feet, observed among prisoners of war (in World War II) and in
malnourished subjects in the Far East, responded to preparations containing
pantothenic acid and probably represents a specific manifestation of deficiency
of this vitamin.
*6. Vitamin B12 (Cyanocobalamin)
a. Chemistry and Biochemical functions. Vitamin B12 is the largest of all the
vitamins and has been isolated in several different forms, of which cyanocobalamin
is the principal one.
1) The absorption of vitamin B12 from the gastrointestinal tract is dependent on a
constituent of the gastric juice designated "intrinsic factor," which is believed
to interact with the vitamin and protect it during its transit to the ileum where
it is absorbed.
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9. Biotin (Vitamin H)
a. Chemistry and Biochemical function. Biotin is a relatively simple monocarboxylic
acid. Its primary function is as the coenzyme for enzymatic reactions involving
the addition of carbon dioxide to other units (carboxylation reactions). It has also
been attributed an important role in the intermediary metabolism of
carbohydrates, proteins and fats (Fig. 1).
Raw egg white contains avidin, a protein which combines with biotin and acts as
an antagonist. Paradoxically, egg yolk is a very rich source of biotin.
b. Biotin deficiency. Deficiency of biotin can be acquired or genetic. Acquired biotin
deficiency is extremely rare due to its ubiquity among foods and because it is
produced by intestinal bacteria. Occasionally biotin deficiency occurs in an
individual who has for some reason consumed a diet consisting mainly of raw egg
whites. Two forms of genetic biotin deficiency occur, neonatal and infantile.
Exfoliative dermatitis has been observed in these infants. Neuropsychiatric
changes are noted in all forms of biotin deficiency.
B. Fat Soluble Vitamins
This group of vitamins is absorbed in association with dietary fats and requires the
presence of bile salts for adequate uptake from the alimentary canal.
*1. Vitamin A (Retinol)
a. Chemistry and Biochemical function. Vitamin A is a long chain alcohol (retinol)
which exists in a number of isometric forms. Vitamin A can be obtained directly
in the diet or more commonly as the proto-vitamin precursors, the carotenes. The
most important of these carotenoids is B-carotene (which consists of two
covalently linked molecules of retinol). The carotenoids present in the diet are
cleaved within the intestinal wall to form Vitamin A. Vitamin A has a number of
roles, the best understood of which is in vision. The aldehyde of retinol, retinal, is
a constituent of the visual pigments rhodopsin and iodopsin, in the rod and cone
cells, respectively, of the retina.
Vitamin A is necessary for growth and development, and is involved in the normal
functioning of the eyes, skin and gonads.
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b. Vitamin A Imbalance
1) Hypovitaminosis A
a) Night blindness. Visual acuity in subdued light depends on excitation of
rhodopsin in the retina. During the visual process some retinal is degraded,
thus a constantly available source of Vitamin A is necessary in order to
maintain adequate levels of rhodopsin due to retinal loss. Inadequate levels
of Vitamin A result in a loss of vision in low intensity light (night
blindness).
b) Epithelial Metaplasia. By an as yet unknown mechanism vitamin A is
necessary for the maintenance of mucous membranes and epithelial of the
eyes, respiratory, gastrointestinal, and genitourinary tracts, and the lining
of numerous gland ducts. Deficiency leads to atrophy and replacement by
stratified squamous epithelium which keratinizes.
i.
Xerophthalmia - The conjunctional and corneal mucosal surfaces of
the eye become dry and rough, and keratin debris accumulates in
whitish plaques (Bitot's spots). Visual acuity is impaired.
ii.
iii.
Skin lesions. Even though the skin is normally keratinized, Vitamin A
deficiency may lead to hyperplasia and hyperkeratinization of the
epidermis.
iv.
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