Nutritional deficiency diseases - Signs, Investigations

Healthful nutritional lack happens when the body isn't getting an adequate number of supplements like nutrients and minerals. There are various circumstances that are brought about by dietary inadequacy, like nutritional deficiency diseases. Our body needs vitamins and other nutrients to protect and for good functioning properly. While nutrients can be found in the food sources we eat, in some cases that isn't sufficient. Certain individuals might have a more prominent requirement for specific nutrients. Expanding the admission of supplements can mitigate side effects and conditions. We take multivitamins and mineral supplements, commonly from outside market.

Here I am writing all nutritional deficiency diseases name with laboratory test below: -

Vitamin A

Disease and signs -

• Bitot's spots
• Conjunctival xerosis
• Corneal xerosis
• Keratomalacia
• Xerosis of skin
• Follicular hyprkeratosis

Investigation

Plasma vitamin A less
Plasma carotene reflects dietary intake of carotenoids
Dark adaption tests shows lower electroretinogram
Electronystagmogram

Vitamin B1 - Beriberi

Disease and signs

• Calf-muscle tenderness
• Weakness of legs
• Loss of ankle and knee jerks
• Hyperesthesia and paresthesia
• Cardiac enlargement, tachycardia, pulmonary congestion and peripheral edema

Investigations

Erythrocyte transketolase (ETK) activity and in vitro effect on ETK activity of thiamine pyrophosphate (TPP)
Urinary thiamine, reflects dietary intake downwards
Blood pyruvate, alphaketoglutarate levels; variably useful downwards
Erythrocyte thiamine concentration

Vitamin B2 - Ariboflavinosis

Disease and signs

• Angular stomatitis
• Cheilosis
• Magneta tongue
• Atrophic lingual papillae
• Corneal vascularization
• Angular palpeberitis
• Dyesebacteria
• Scrotal dermatosis

Investigations

Erythrocyte glutathione reductase (EGR) downwards
Activity and in vitro effect or EGR
Activity of flavin adenine dinucleotide (FAD) downwards
Urinary riboflavin downwards reflects dietary intake

Vitamin B3 - Pellagra

Disease and signs

• Scarlet and raw tongue
• Atrophic lingual papillae
• Tongue fissuring
• Malar and supraorbital pigmentation
• Pellagus dermatosis
• Diarrhea, dementia

Investigations

Urinary N-methylnicontinamide downwards

Vitamin B4 - Transaminase

Disease and signs

• Nasolabial seborrhea
• Glossitis
• Peripheral neuropathy with symmetric sensory and motor deficits, more likely in the lower extremities
• Drug resistant convulsions in infants

Investigations

Erythrocyte glutamic-oxaloactetic (EGOT) activity and in vitro effect on downwards
EGOT activity of pyridoxal phosphate downwards
Tryptophan load test (effect on urinary excretion of xanthurenic and quinolic acids) downwards

Vitamin C - Scurvy

Disease and signs

• Spongy and bleeding gums
• Petechiae
• Ecchymosis
• Follicular hyperkeratosis with coiled hairs and perifollicular or subpeiosteal hematoma
• Painful epiphyseal enlargement

Investigations

Ascorbic acid concentration in: Plasma downwards
Whole blood count downwards
Vitamin C load test downwards
Urinary ascorbic acid downwards

Protein-calorie malnutirtion - Kwashiorkor marasmus

Disease and signs

• Psychomotor change
• Dyspigmentation of hair
• Easy pluckability of hair
• Thin sparse hair
• Striaigt hair
• Moon face
• Diffuse depigmentation of skin
• Flaky-paint dematosis
• Edema
• Muscle wasting
• Hepatomegaly

Investigations

Serum albumin concentration downwards
Serum amino acid ration downwards
Urinary excretion of hydroxyproline (hydroxyproline index)
Urinary excretion of creatinene per 24 hours downwards
Analysis of anagenic hair roots for volume, protein or DNA

Nutritional marasmus

Disease and signs

Thin with no subcutaneous fat, looks wizened and shrunken; head is large, ribs stand cut, abdomen may be distended, limbs looks like sticks, buttocks are boggy, diarrhea is usual, chronic infection like tuberculosis common

Investigations

Relative weight downwards
Investigations related to other diseases
Test for vitamin deficiency

Semi-starvation - Older children and adults

Disease and signs

• Marked loss of subcutaneous fat
• Muscle wasting
• Dirty-brown patchy pigmentation of face, especially malar eminences
• Parotid enlargement
• Weakness and physical inactivity
• Bradycardia at rest

Investigations

Relative weight loss
Measurement of skin-fold thickness
Basal metabolic rate
Lean body mass (derived from measurement of body density, K-counting, or estimation of total body water)

Vitamin D - Rickets

Disease and signs

• Active ricket (in young children)
• Epiphyseal enlargement (painless, over six months)
• Beading of ribs
• Persistently open anterior fontanelle (after eighteen months of age)
• Craniotabes (under one year of age)
• Muscular hypotonia
• Healed ricket (in older children or adults): Frontal or parietal bossing
• Knock-knees or bowlegs
• Deformities in thorax (Harrison's sulcus, pigeon chest)
• Osteomalacia (in adults)

Investigations

Serum alkaline phosphatase concentration downwards
Plasma assay for 25-hydroxycholecalciferol (25-HCC)

Iron

Disease and signs

• Pallor
• Angular stomatitis
• Atrophic lingual papillae
• Thin, brittle nails with spooning (kolionychia)

Investigations

Plasma iron level downwards
Plasma iron-binding capacity
Status of marrow iron downwards
Hematocrit
Blood hemoglobin concentration
Erythrocyte morphology
Erythrocyte protoporphyrin concentration

Folic acid

Disease and signs

• Pallor
• Glossitis
• Apthous stomatitis

Investigations

Erythrocyte folate concentration downwards
Serum folate concentration downwards
urine formiminoglutamic acid (FIGLU)
Bone marrow morphology

Vitamin B12

Disease and signs

• Pallor
• Mild icterus (lemon-yellow color of skin in lightly pigmented subjects)
• Anorexia, flatulence, diarrhea
• Paresthesia
• Ataxia
• Loss of position and vibratory sense
• Arcflexia with extensor plantar responses Optic neuritis
• Occasionally dementia, forgetfulness

Investigations

Serum vitamin B12 concentration downwards
Radioactive vitamin B12 absorption (Schilling test)
Correction of abnormal Schilling test by concomitant administration of intrinsic factor (IF)
Bone marrow morphology
Serum bilirubin
Test for circulating IF ANTIBODY

Vitamin E

Disease and signs

• Mild hemolytic anemia
• In chronic deficiency: ataxia and visual scotomas

Investigations

Tocopherol downwards

Vitamin K

Disease and signs

Blood clotting disorders

Investigations

Prothrombin activity downwards

Kwashiorkor

What is Kwashiorkor disease?

Kwashiorkor marasmus is a type of extreme protein hunger, described by edema and an extended liver with greasy penetrates. It is believed to be brought about by adequate calorie admission, yet with inadequate protein utilization (or absence of good quality protein), which recognizes it from marasmus. Ongoing examinations have found that an absence of cancer prevention agent micronutrients, for example, β-carotene, lycopene, different carotenoids, and L-ascorbic acid as well as the presence of aflatoxins might improve this disease condition. Nonetheless, the specific reason for Kwashiorkor is at this point unclear. Deficient food supply is related with events of Kwashiorkor; events in major league salary nations are uncommon. It happens among weaning youngsters to periods of around five years of age.

Pathogenesis of Kwashiorkor

Low dietary protein + adequate carbohydrate > Insulin secretion maintained. Insulin spares muscle protein in expense of liver protein > Fall in albumin > Edema > Free fatty acids from adipose tissue > liver > fatty > liver...

Prevention of Kwashiorkor

Educate mothers

Advice to farmers

Provide food supplements in clinics

Legumes, nuts, and seeds (locally produced).