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Overview of micronutrient
deficiency disorders and
clinical signs
By: Darayus P.Gazder
 All micronutrients are important for:
1) Growth,
2) Health,
3) Development.
BACKGROUND
Vitamins are organic substances that
are essential for several enzymatic
functions in human metabolism
A compound is called vitamin when it
cannot be synthesized in sufficient
quantities by an organism, and must be
obtained from the diet.
Functions
 Acts as hormones (vitamin D)
Acts as antioxidant (vitamin E)
 Acts as mediators of cell signalling
and regulators of cell and tissue
growth and differentiation(vitamin
A)
Acts as precusors for enzyme
cofactor biomolecules(coenzymes)
that help act as catalysts and
substrates in metabolism
VITAMINS
 Vitamins are classified according
to solubility into fat soluble & water
soluble.
 13 vitamins are known, 4 fat
soluble (KEDA) & 9 water soluble
(C, Folate & the B group).
VITAMINS
 Water soluble-dissolve easily in
water readily excreted from the body.
 Fat soluble-absorbed through the
intestinal tract with the help of
lipids(fats).
VITAMIN A-Vitamin A is a
generic term for many related
compounds.
Retinol (alcohol), Retinal (aldehyde)
are often called preformed vitamin A.
Retinal can be converted
by the body to retinoic
acid which is known to
affect gene transcription.
Body can convert b-carotene
to retinol, thus called provitamin A.
FUNCTIONS
•Immunity: important for activation of T
lymphocyte, maturation of WBC & integrity
of physiological barrier.
•Vision: integrity of eye & formation of
rodopsin necessary for dark adaptation.
•Red blood cell production
•Regulation of gene expression: vital to
cell differentiation & physiologic processes
• Growth & development
Animal Foods Plant Foods
Cod liver oil Sweet potato
Liver & kidney Carrots
Egg Spinach
Butter
Milk & cheese
RICH DIETARY SOURCES
Vitamin A deficiency
•Deficiency of vitamin A leads to:
1. Ocular change- Night blindness &
xerophthalmia
2. Extra ocular changes
Growth retardation
Acquired immune deficiency
Anemia
WHO CLASSIFICATION OF
XEROPTHALMIA
PRIMARY SIGNS SECONDARY SIGNS
 X1A: Conjunctival
xerosis
 X1B: Bitot’s spot
 X2: Corneal xerosis
 X3A: Corneal ulceration
 X3 B: Keratomalacia
 XN: Night blindness
 XF: Fundal changes
 XS: Corneal scarring
Xeropthalmia
Bitots spots (X1B) are foamy white areas on the white of the eye.
Corneal Xerosis(X2) Keratomalacia (X3)
INVESTIGATIONS:
Clinical evaluation(Skin, Eyes, Growth)
Serum retinol <20 mcg/dL;
Molar ratio of retinol:RBP(Retinol
binding protein) <0.7 is also diagnostic
Treatment
• Overall mortality is reduced by 23%
• Death from measles is reduced by 50%
• Death from diarrhea is reduced by 40%
TOXICITY- Children and adults ingesting
>50,000 IU/day for several month.
•Vitamin A in excess leads to:
•Dermatitis with xanthosis cutis
•Hepatosplenomegaly
•Fatigue, malaise, anorexia, vomiting
•Bone pain & increased risk of fracture
•Pseudotumor Cerebri
•Xray-hyperostosis of the shafts of long
bones
VITAMIN D
 Vitamin D comprises a group of sterols; the
most important of which are cholecalciferol
(vitamin D3) & ergosterol (vitamin D2).
 Humans & animal utilize only vitamin D3 &
they can produce it inside their bodies from
cholesterol.
 Cholesterol is converted to 7-dehydro-
cholesterol (7DC), which is a precursor of
vitamin D3.
FUNCTIONS
•Calcium metabolism: vitamin D enhances
Calcium absorption in the gut & renal
tubules.
•Cell differentiation: particularly of
collagen & skin epithelium
•Immunity: important for Cell Mediated
Immunity & coordination of the immune
response.
Sources of Vitamin D
Sunlight is the most important
source
 Fish liver oil
 Fish & sea food (herring & salmon)
 Eggs
 Plants do not contain vitamin D3
Human milk deficient in vit. D,
contains only 30-40 IU per liter mostly
from 25(OH)D3
Vitamin D deficiency
•Deficiency of vitamin D leads to:
 Rickets in small children.
 Osteomalacia
RICKETS
Lack of adequate mineralisation of growing bone
CLINICAL FEATURES
RICKETS
Sign and symptoms-
•Skeletal deformity-bowed legs(genu varum) in toddlers,
knock knees (genu valgum) in older children,
craniotabes (soft skull), spinal and pelvic deformities,
growth disturbances, costochondral swelling(rickety
rosary), harrisons groove, greenstick fractures, bone
pain and tenderness, muscle weakness and dental
problems.
INVESTIGATIONS
Radiologic changes-loss of normal zone of provisional
calcification adjacent to metaphysis.
Widening of the growth plate.
Splaying and cupping of metaphysis.
Generalized reduction in bone density.
Low circulating levels of 25(OH)D3.
Elevated serum alkaline phosphate.
Calcium level may be normal or low
Phosphate level usually are unchanged or low.
Metaphyseal
cupping and
fraying in the
distal radius
and ulna in
rickets
TREATMENT
 AAP: 400IU/day for all breastfed infants, beginning in
1st 2months of life and continue until infant is receiving
>500ml/day of vitamin of formula or vitamin D fortified
milk
 Rickets: 1600-5000IU of VitD3 per day
 Stross therapy:
TOXICITY
•Hypervitaminosis D – infants-2,000-3,000 IU/day,
adults-10,000 IU/day for several months.
causes hypercalcemia,hyperphosphatemia,
hypertension which manifest as:
Nausea & vomiting
Excessive thirst & polyuria
Severe itching
Joint & muscle pains
Azotemia, nephrolithiasis, ectopic calcification.
Disorientation & coma.
Vitamin K
 It is a cofactor of the enzyme that catalyzes one
step in the formation of prothrombin.
 Needed for the generation of several clotting
factors in the liver.
 Source- green leafy vegetables.
 Deficiency-coagulation defect due to
hypoprothrombinemia and deficiency of factor VII
resulting in hemorrhagic disease of the newborn.
 1mg IM –newborn.
 In severe deficiency-2.5 to 5 mg/day parenterally.
Vitamin C - Ascorbic Acid
 Humans are among the few species that
cannot synthesize vitamin C and must obtain
it from food
 Manufacture of collagen
 Helps support and protect blood vessels,
bones, joints, organs and muscles
 Protective barrier against infection and
disease
 Promotes healing of wounds, fractures and
bruises
 Sources
 Citrus fruits, strawberries, kiwifruit,
blackcurrants, papaya, and vegetables
Scurvy – Signs & Symptoms
 Small blood vessels fragile
 Gums reddened and bleed easily
 Teeth loose
 Joint pains
 Scorbutic rosary: Costochondral junction is more angular
and has a sharper step-off
 Dry scaly skin
 Lower wound-healing, increased susceptibility to
infections, and defects in bone development in
children
 Legs assume a “frog like position”(Hips and knees
are semiflexed with the feet rotated outwards)
Diagnosis
 History+Clinical Features
 Xray appearance of long bones:
1. Ground glass appearance of bones
2. Cortex is reduced to “Pencil Point” thinness
3. There is white line of Fraenkel (An irregular but
thickened white line at metaphysis representing
the zone of well calcified cartilage
 Low levels of Vitamin C
Treatment
 Prevented by a diet of Vitamin C
 Daily therapeutic dose of Vitamin C is 100-200mg
or more.
 Daily requirement is 45-60mg/day in children
Thiamin – Vitamin B1
 What it does in the body
 energy production and carbohydrate and fatty
acid metabolism
 vital for normal development, growth,
reproduction, healthy skin and hair, blood
production and immune function
 Deficiency due to diets of polished rice
Beri Beri- Signs & Symptoms
 Develop within 12 weeks
 Dry Beriberi  peripheral neuropathy
 Difficulty walking and paralysis of the legs
 Reduced knee jerk and other tendon reflexes, foot
and wrist drop
 Progressive, severe weakness and wasting of
muscles
 Wet Beriberi  cardiopathy
 Edema of legs, trunk and face
 Congestive heart failure (cause of death)
Wrist & foot drop:
Dry Beri Beri
Edema:
Wet Beri Beri
Riboflavin Deficiency
 Deficiency is rare and often occurs with other
B vitamin deficiencies
 Several months for symptoms to occur
 Burning, itching of eyes
 Angular stomatitis
 Cheilosis
 Swelling and shallow ulcerations of lips
 Glossitis
Riboflavin deficiency
Angular stomatitis Glossitis
Niacin – Vitamin B3
 Essential for healthy skin, tongue, digestive
tract tissues, and RBC formation
 Processing of grains removes most of their
niacin content so flour is enriched with the
vitamin
Pellagra – Signs & Symptoms
 ‘Three Ds’: diarrhea, dermatitis and dementia
 Reddish skin rash on the face, hands and
feet which becomes rough and dark when
exposed to sunlight (pellagrous dermatosis)
 acute: red, swollen with itching, cracking,
burning, and exudate
 chronic: dry, rough, thickened and scaly with
brown pigmentation
 dementia, tremors, irritability, anxiety,
confusion and depression
Pellagra Dermatitis
Anemia
 Iron deficiency is the most common cause of anemia and
most common preventable nutritional deficiency.
Causes:
Nutritional
 Mother anemic
 Increased Fe
demands:(Preterm,IUGR,
Cyanotic heart disease)
 Prolonged breastfeeding,
cow milk
 Malabsorption
 Poor weaning
Blood Loss
1. Neonates:
 Fetomaternal transfusions
 Twin to twin transfusions
 Bleeding from umblical cord
 Hemorrhagic disease of
Newborn
2. Children:
 Hookworm infestation
 Rectal polys
 IBD
Anemia- Signs & Symptoms
 Symptoms
 Tiredness/ Fatigue/ Headache/Breathlessness
 Signs
 Pallor: Pale conjunctivae, palms, tongue, lips, skin,
Spoon shaped nails.
 Tachycardia, Systolic murmur
 If Hb<3, check for
signs of CHF
Investigations:
 CBC: 1) Hemoglobin <11.0 g/dL
 MVC/ MCH/ MCHC are all decreased
 Reticulocyte count: Normal or minimally elevated
 Peripheral blood smear:
Microcytic hypochromic anemia
 Serum Fe levels: Decreased
 TIBC: Increased
 Serum ferritin levels: Decreased
Normal Blood Film
MICROCYTES
HYPOCHROMIA
Anemia- Treatment
 Dietary counseling: Infants fortified milk formula less than 1yr
of age
 Dietary diversification
 Foods that are rich in iron include:
 Meat/ Fortified cereals/ Spinach/Lentils and beans
 Iron supplements
 Mild to moderate anemia: 3-6mg/kg/day of iron (3-5 months)
 Severe anemia and cardiac decompensation: Start blood
transfusions, packed RBC’s: (2-3ml/kg)
Zinc Deficiency
 Zinc essential for the function of many enzymes
and metabolic processes
 Zinc deficiency is common in developing countries
with high mortality
 Zinc commonly the most deficient nutrient in
complementary food mixtures fed to infants during
weaning
 Zinc interventions are among those proposed to
help reduce child deaths globally by 63% (Lancet,
2003)
Zinc Deficiency- Signs & Symptoms
 Skin lesions
 Immune impairment
 Diarrhea
 Poor growth
 Acrodermatitis enteropathica:
 AR disorder (defect of Zn absorption)
 Begins within 2-4 weeks of
weaning
 Perioral/ Perianal dermatitis/
Failure to thrive
Zinc Deficiency- Assessment
 No simple, quantitative biochemical test of zinc status
 Serum Zinc
• Can fluctuate as much as 20% in 24-hour period
• Levels decreased during acute infections
• Expensive
 Hair zinc analysis
Zinc Deficiency- Treatment
 Regular zinc supplements can greatly reduce common
infant morbidities in developing countries
• Adjunct treatment of diarrhea
-10 mg/day for infants below 6 months,
-20mg/day of zinc for 10-14 days(>6months)
Zinc deficiency commonly coexists with other
micronutrient deficiencies including iron, making
single supplements inappropriate
Emperical trial of Zinc supplementation(1ug/kg/day)
is safe and reasonable

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Nutrition in-children

  • 1. Overview of micronutrient deficiency disorders and clinical signs By: Darayus P.Gazder
  • 2.  All micronutrients are important for: 1) Growth, 2) Health, 3) Development.
  • 3. BACKGROUND Vitamins are organic substances that are essential for several enzymatic functions in human metabolism A compound is called vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet.
  • 4. Functions  Acts as hormones (vitamin D) Acts as antioxidant (vitamin E)  Acts as mediators of cell signalling and regulators of cell and tissue growth and differentiation(vitamin A) Acts as precusors for enzyme cofactor biomolecules(coenzymes) that help act as catalysts and substrates in metabolism
  • 5. VITAMINS  Vitamins are classified according to solubility into fat soluble & water soluble.  13 vitamins are known, 4 fat soluble (KEDA) & 9 water soluble (C, Folate & the B group).
  • 6. VITAMINS  Water soluble-dissolve easily in water readily excreted from the body.  Fat soluble-absorbed through the intestinal tract with the help of lipids(fats).
  • 7.
  • 8. VITAMIN A-Vitamin A is a generic term for many related compounds. Retinol (alcohol), Retinal (aldehyde) are often called preformed vitamin A. Retinal can be converted by the body to retinoic acid which is known to affect gene transcription. Body can convert b-carotene to retinol, thus called provitamin A.
  • 9. FUNCTIONS •Immunity: important for activation of T lymphocyte, maturation of WBC & integrity of physiological barrier. •Vision: integrity of eye & formation of rodopsin necessary for dark adaptation. •Red blood cell production •Regulation of gene expression: vital to cell differentiation & physiologic processes • Growth & development
  • 10. Animal Foods Plant Foods Cod liver oil Sweet potato Liver & kidney Carrots Egg Spinach Butter Milk & cheese RICH DIETARY SOURCES
  • 11. Vitamin A deficiency •Deficiency of vitamin A leads to: 1. Ocular change- Night blindness & xerophthalmia 2. Extra ocular changes Growth retardation Acquired immune deficiency Anemia
  • 12. WHO CLASSIFICATION OF XEROPTHALMIA PRIMARY SIGNS SECONDARY SIGNS  X1A: Conjunctival xerosis  X1B: Bitot’s spot  X2: Corneal xerosis  X3A: Corneal ulceration  X3 B: Keratomalacia  XN: Night blindness  XF: Fundal changes  XS: Corneal scarring
  • 13. Xeropthalmia Bitots spots (X1B) are foamy white areas on the white of the eye. Corneal Xerosis(X2) Keratomalacia (X3)
  • 14.
  • 15. INVESTIGATIONS: Clinical evaluation(Skin, Eyes, Growth) Serum retinol <20 mcg/dL; Molar ratio of retinol:RBP(Retinol binding protein) <0.7 is also diagnostic
  • 16. Treatment • Overall mortality is reduced by 23% • Death from measles is reduced by 50% • Death from diarrhea is reduced by 40%
  • 17. TOXICITY- Children and adults ingesting >50,000 IU/day for several month. •Vitamin A in excess leads to: •Dermatitis with xanthosis cutis •Hepatosplenomegaly •Fatigue, malaise, anorexia, vomiting •Bone pain & increased risk of fracture •Pseudotumor Cerebri •Xray-hyperostosis of the shafts of long bones
  • 18. VITAMIN D  Vitamin D comprises a group of sterols; the most important of which are cholecalciferol (vitamin D3) & ergosterol (vitamin D2).  Humans & animal utilize only vitamin D3 & they can produce it inside their bodies from cholesterol.  Cholesterol is converted to 7-dehydro- cholesterol (7DC), which is a precursor of vitamin D3.
  • 19.
  • 20. FUNCTIONS •Calcium metabolism: vitamin D enhances Calcium absorption in the gut & renal tubules. •Cell differentiation: particularly of collagen & skin epithelium •Immunity: important for Cell Mediated Immunity & coordination of the immune response.
  • 21. Sources of Vitamin D Sunlight is the most important source  Fish liver oil  Fish & sea food (herring & salmon)  Eggs  Plants do not contain vitamin D3 Human milk deficient in vit. D, contains only 30-40 IU per liter mostly from 25(OH)D3
  • 22. Vitamin D deficiency •Deficiency of vitamin D leads to:  Rickets in small children.  Osteomalacia
  • 23. RICKETS Lack of adequate mineralisation of growing bone CLINICAL FEATURES
  • 24. RICKETS Sign and symptoms- •Skeletal deformity-bowed legs(genu varum) in toddlers, knock knees (genu valgum) in older children, craniotabes (soft skull), spinal and pelvic deformities, growth disturbances, costochondral swelling(rickety rosary), harrisons groove, greenstick fractures, bone pain and tenderness, muscle weakness and dental problems.
  • 25. INVESTIGATIONS Radiologic changes-loss of normal zone of provisional calcification adjacent to metaphysis. Widening of the growth plate. Splaying and cupping of metaphysis. Generalized reduction in bone density. Low circulating levels of 25(OH)D3. Elevated serum alkaline phosphate. Calcium level may be normal or low Phosphate level usually are unchanged or low.
  • 26. Metaphyseal cupping and fraying in the distal radius and ulna in rickets
  • 27. TREATMENT  AAP: 400IU/day for all breastfed infants, beginning in 1st 2months of life and continue until infant is receiving >500ml/day of vitamin of formula or vitamin D fortified milk  Rickets: 1600-5000IU of VitD3 per day  Stross therapy:
  • 28.
  • 29. TOXICITY •Hypervitaminosis D – infants-2,000-3,000 IU/day, adults-10,000 IU/day for several months. causes hypercalcemia,hyperphosphatemia, hypertension which manifest as: Nausea & vomiting Excessive thirst & polyuria Severe itching Joint & muscle pains Azotemia, nephrolithiasis, ectopic calcification. Disorientation & coma.
  • 30. Vitamin K  It is a cofactor of the enzyme that catalyzes one step in the formation of prothrombin.  Needed for the generation of several clotting factors in the liver.  Source- green leafy vegetables.  Deficiency-coagulation defect due to hypoprothrombinemia and deficiency of factor VII resulting in hemorrhagic disease of the newborn.  1mg IM –newborn.  In severe deficiency-2.5 to 5 mg/day parenterally.
  • 31. Vitamin C - Ascorbic Acid  Humans are among the few species that cannot synthesize vitamin C and must obtain it from food  Manufacture of collagen  Helps support and protect blood vessels, bones, joints, organs and muscles  Protective barrier against infection and disease  Promotes healing of wounds, fractures and bruises  Sources  Citrus fruits, strawberries, kiwifruit, blackcurrants, papaya, and vegetables
  • 32. Scurvy – Signs & Symptoms  Small blood vessels fragile  Gums reddened and bleed easily  Teeth loose  Joint pains  Scorbutic rosary: Costochondral junction is more angular and has a sharper step-off  Dry scaly skin  Lower wound-healing, increased susceptibility to infections, and defects in bone development in children  Legs assume a “frog like position”(Hips and knees are semiflexed with the feet rotated outwards)
  • 33. Diagnosis  History+Clinical Features  Xray appearance of long bones: 1. Ground glass appearance of bones 2. Cortex is reduced to “Pencil Point” thinness 3. There is white line of Fraenkel (An irregular but thickened white line at metaphysis representing the zone of well calcified cartilage  Low levels of Vitamin C
  • 34. Treatment  Prevented by a diet of Vitamin C  Daily therapeutic dose of Vitamin C is 100-200mg or more.  Daily requirement is 45-60mg/day in children
  • 35. Thiamin – Vitamin B1  What it does in the body  energy production and carbohydrate and fatty acid metabolism  vital for normal development, growth, reproduction, healthy skin and hair, blood production and immune function  Deficiency due to diets of polished rice
  • 36. Beri Beri- Signs & Symptoms  Develop within 12 weeks  Dry Beriberi  peripheral neuropathy  Difficulty walking and paralysis of the legs  Reduced knee jerk and other tendon reflexes, foot and wrist drop  Progressive, severe weakness and wasting of muscles  Wet Beriberi  cardiopathy  Edema of legs, trunk and face  Congestive heart failure (cause of death)
  • 37. Wrist & foot drop: Dry Beri Beri Edema: Wet Beri Beri
  • 38. Riboflavin Deficiency  Deficiency is rare and often occurs with other B vitamin deficiencies  Several months for symptoms to occur  Burning, itching of eyes  Angular stomatitis  Cheilosis  Swelling and shallow ulcerations of lips  Glossitis
  • 40. Niacin – Vitamin B3  Essential for healthy skin, tongue, digestive tract tissues, and RBC formation  Processing of grains removes most of their niacin content so flour is enriched with the vitamin
  • 41. Pellagra – Signs & Symptoms  ‘Three Ds’: diarrhea, dermatitis and dementia  Reddish skin rash on the face, hands and feet which becomes rough and dark when exposed to sunlight (pellagrous dermatosis)  acute: red, swollen with itching, cracking, burning, and exudate  chronic: dry, rough, thickened and scaly with brown pigmentation  dementia, tremors, irritability, anxiety, confusion and depression
  • 43. Anemia  Iron deficiency is the most common cause of anemia and most common preventable nutritional deficiency.
  • 44. Causes: Nutritional  Mother anemic  Increased Fe demands:(Preterm,IUGR, Cyanotic heart disease)  Prolonged breastfeeding, cow milk  Malabsorption  Poor weaning Blood Loss 1. Neonates:  Fetomaternal transfusions  Twin to twin transfusions  Bleeding from umblical cord  Hemorrhagic disease of Newborn 2. Children:  Hookworm infestation  Rectal polys  IBD
  • 45. Anemia- Signs & Symptoms  Symptoms  Tiredness/ Fatigue/ Headache/Breathlessness  Signs  Pallor: Pale conjunctivae, palms, tongue, lips, skin, Spoon shaped nails.  Tachycardia, Systolic murmur  If Hb<3, check for signs of CHF
  • 46. Investigations:  CBC: 1) Hemoglobin <11.0 g/dL  MVC/ MCH/ MCHC are all decreased  Reticulocyte count: Normal or minimally elevated  Peripheral blood smear: Microcytic hypochromic anemia  Serum Fe levels: Decreased  TIBC: Increased  Serum ferritin levels: Decreased
  • 50. Anemia- Treatment  Dietary counseling: Infants fortified milk formula less than 1yr of age  Dietary diversification  Foods that are rich in iron include:  Meat/ Fortified cereals/ Spinach/Lentils and beans  Iron supplements  Mild to moderate anemia: 3-6mg/kg/day of iron (3-5 months)  Severe anemia and cardiac decompensation: Start blood transfusions, packed RBC’s: (2-3ml/kg)
  • 51. Zinc Deficiency  Zinc essential for the function of many enzymes and metabolic processes  Zinc deficiency is common in developing countries with high mortality  Zinc commonly the most deficient nutrient in complementary food mixtures fed to infants during weaning  Zinc interventions are among those proposed to help reduce child deaths globally by 63% (Lancet, 2003)
  • 52. Zinc Deficiency- Signs & Symptoms  Skin lesions  Immune impairment  Diarrhea  Poor growth  Acrodermatitis enteropathica:  AR disorder (defect of Zn absorption)  Begins within 2-4 weeks of weaning  Perioral/ Perianal dermatitis/ Failure to thrive
  • 53. Zinc Deficiency- Assessment  No simple, quantitative biochemical test of zinc status  Serum Zinc • Can fluctuate as much as 20% in 24-hour period • Levels decreased during acute infections • Expensive  Hair zinc analysis
  • 54. Zinc Deficiency- Treatment  Regular zinc supplements can greatly reduce common infant morbidities in developing countries • Adjunct treatment of diarrhea -10 mg/day for infants below 6 months, -20mg/day of zinc for 10-14 days(>6months) Zinc deficiency commonly coexists with other micronutrient deficiencies including iron, making single supplements inappropriate Emperical trial of Zinc supplementation(1ug/kg/day) is safe and reasonable