1. NUTRITIONAL DISORDERS
HA MWAKYOMA, MD

2. MALNUTRITION
A pathological state resulting from a relative or absolute deficiency or excess of one or more essential nutrients; clinically manifested or detected only by biochemical, anthropometric or physiological tests.

3. Forms of Malnutrition Undernutrition: Marasmus
Overnutrition: Obesity, Hypervitaminoses
Specific Deficiency: Kwashiorkor, Hypovitaminoses,
Mineral Deficiencies
Imbalance: Electrolyte Imbalance

4. ETIOLOGY

7. Classification of Undernutrition
Gomez Classification: uses weight-for-age measurements; provide grading as to prognosis
Weight-for-Age% Status
Normal
st degree
nd degree
< rd degree

8. Wellcome Classification: simple since based on 2 criteria only - wt loss in terms of wt for age% & presence or absence of edema
Wt-for-Age% Edema No Edema
Kwashiorkor Undernutrition
< 60 Marasmic- Marasmus
Kwashiorkor

9. Waterlow Classification: adopted by WHO; can distinguish between deficits of weight-for-height% (wasting) & height-for-age% (stunting)
N Mild Mod Severe
Ht-for-Age% > <80
Wt-for-Ht% > <70

10. Protein Energy Malnutrition Iceberg

11. Marasmus Common in the 1st year of life Etiology:
“Balanced starvation”
Insufficient breastmilk
Dilute milk mixture or lack of hygiene

12. Marasmus Clinical Manifestations: Wasting Muscle wasting
Growth retardation
Mental changes
No edema
Variable-subnormal temp, slow PR, good appetite, often w/diarrhea, etc.
Laboratory Data:
Serum albumin N
Urinary urea/ gm crea N
Urinary hydroxyproline/ gm crea low, early
Serum essential a.a. index N
Anemia uncommon
Glucose tolerance curves diabetic type
K+ deficiency present
Serum cholesterol low
Diminished enzyme activity
Bone growth delayed
Liver biopsy N or atrophic

13. Kwashiorkor Between 1-3 yrs old Etiology:
Very low protein but w/calories from CHO
In places where starchy foods are main staple
Never exclusively dietary

14. Kwashiorkor Clinical Manifestations: Diagnostic Signs Edema
Muscle wasting
Psychomotor changes
Common Signs
Hair changes
Diffuse depigmentation of skin
Moonface
Anemia
Occasional Signs:
Flaky-paint rash
Noma
Hepatomegaly
Associated
Laboratory:
Decreased serum albumin
EEG abnomalities
Iron & folic acid deficiencies
Liver biopsy fatty or fibrosis may occur

15. Kwashiorkor

16. Obesity
Definition: Generalized, excessive accumulation of fat in subcutaneous & other tissues
Classification according to “desirable” weight standard: Overweight ~ >10% while Obese ~ >20%
The Centers for Disease Control (CDC) avoids using "obesity" instead suggest two levels of overweight: 85th percentile of BMI ~ "at risk" level & 95th percentile of BMI ~ the more severe level

17. Obesity
Appears most frequently in the 1st year, 5-6 years & adolescence
Etiology:
Excessive intake of food compared w/ utilization
Genetic constitution
Psychic disturbance
Endocrine & metabolic disturbances rare
Insufficient exercise or lack of activity

18. Obesity Clinical Manifestations:
Fine facial features on a heavy-looking taller child
Larger upper arms & thighs
Genu valgum common
Relatively small hands & fingers tapering
Adiposity in mammary regions
Pendulous abdomen w/ striae
In boys, external genitalia appear small though actually average in size
In girls, external genitalia normal & menarche not delayed
Psychologic disturbances common
Bone age advanced

19. Obesity

20. Complication of Obesity
Pickwickian Syndrome
Rare complication of extreme exogenous obesity
Severe cardiorespiratory distress & alveolar hypoventilation
Includes polycythemia, hypoxemia, cyanosis, CHF & somnolence

21. The Energy-Releasing Vitamins

22. Thiamine, Riboflavin, Niacin, Pyridoxine are cofactors to enzymes in energy metabolism, hence, deficiencies show up in quickly growing tissues such as epithelium.
Typical symptoms for the group include:
Dermatitis
Glossitis
Cheilitis
Diarrhea
Nerve cells use lots of energy, so symptoms also show up in the nervous tissue:
Peripheral neuropathy
Depression
Mental confusion
Lack of motor coordination
Malaise

23. Thiamine (Vitamin B1) Deficiency Beriberi
Pathology:
Biochemically, there is accumulation of pyruvic and lactic acid in body fluids causing:
Cardiac dysfunction such as cardiac enlargement esp right side, edema of interstitial tissue & fatty degeneration of myocardium
Degeneration of myelin & of axon cylinders resulting in peripheral neuropathy and
In chronic deficiency states, vascular dilatation & brain hemorrhages of Wernicke’s Disease, resulting in weakness of eye movement, ataxia of gait and mental disturbance

24. Thiamine Deficiency (Beriberi)
Three forms:
Wet beriberi: generalized edema, acute cardiac symptoms and prompt response to thiamine administration
Dry beriberi: edema not present, condition similar to peripheral neuritis w/ neurological disorders present
Infantile beriberi divided into:
Acute cardiac - ages 2-4 months; sudden onset of cardiac s/sx such as cyanosis, dyspnea, systolic murmur & pulmonary edema w/ rales
Aphonic - ages 5-7 months; insidious onset of hoarseness, dysphonia or aphonia
Pseudomeningeal - ages 8-10 months; signs of meningeal irritation w/ apathy, drowsiness & even unconsciousness; occurs more often

25. Thiamine Deficiency (Beriberi)
Prevention:
Richest sources are pork, whole grain, enriched cereal grains and legumes
Improved milling of rice conserve thiamine
Excessive cooking of vegetables or polishing of cereals destroy
In breast-fed infants, prevention achieved by maternal diet w/ sufficient amounts

26. Thiamine Deficiency (Beriberi)

27. Thiamine Deficiency (Beriberi)

28. Riboflavin (Vitamin B2) Deficiency
Functions:
Acts as coenzyme of flavoprotein important in a. a., f. a. & CHO metabolism & cellular respiration
Needed also by retinal eye pigments for light adaptation
Clinical Manifestations:
Characteristic lesions of the lips, the most common of which are angular stomatitis and cheilosis
Localized seborrheic dermatitis of the face may result such as nasolabial seborrhea or angular palpebritis

29. Clinical Manifestations:--cont--
Scrotal or vulvar dermatosis may also occur
Ocular s/sx are photophobia, blurred vision, itching of the eyes, lacrimation & corneal vascularization

30. Riboflavin Deficiency
Prevention:
Best sources: eggs, liver, meat, fish, milk, whole or enriched ground cereals, legumes, green leafy vegetables
Impaired absorption in achlorhydria, diarrhea & vomiting

31. Riboflavin Deficiency

32. Niacin (Vitamin B3) Deficiency Pellagra
Etiology:
Diets low in niacin &/or tryptophan
Amino acid imbalance or as a result of malabsorption
Excessive corn consumption
Clinical Manifestations:
Start w/ anorexia, weakness, irritability, numbness & dizziness
Classical triad of
dermatitis,
diarrhea &
dementia

33. Clinical Manifestations: ---cont---
Dermatitis may develop insidiously to sunlight or heat
First appears as symmetrical erythema
Followed by drying, scaling & pigmentation w/ vesicles & bullae at times
Predilection for back of hands, wrists, forearms (pellagrous glove), neck (Casal’s necklace) & lower legs (pellagrous boot)
GIT s/sx are
diarrhea,
stomatitis or glossitis;
feces pale, foul milky, soapy or at times steatorrheic

34. Clinical Manifestations: ---cont---
Mental changes include
depression,
irritability,
disorientation,
insomnia &
delirium

35. Niacin Deficiency (Pellagra)
Prevention:
Rich sources include meat, peanuts and legumes, whole grain and enriched breads and cereals
Avoid too large a proportion of corn

36. Pyridoxine (Vitamin B6) Deficiency
Functions:
Vitamin B6 is involved in the synthesis and catabolism of amino acids,
synthesis of neurotransmitters, porphyrins and niacin
Plays important role in clinical conditions such as anemia, hyperemesis gravidarum, cardiac decompensation, radiation effects, skin grafting, INH therapy & seborrheic dermatitis

37. Pyridoxine (Vitamin B6) Deficiency
Etiology:
Losses from refining, processing, cooking & storing
Malabsorptive diseases such as celiac disease may contribute
Direct antagonism might occur between INH & pyridoxal phosphate at the apoenzyme level

38. Pyridoxine Deficiency
Clinical Manifestations:
Three different types
Neuropathic, due to insufficient neurotransmitter synthesis, such as irritability, depression & somnolence
Pellagrous, due to low endogenous niacin synthesis, such as seborrheic dermatitis, intertrigo, angular stomatitis & glossitis

39. Clinical Manifestations:---cont--
Anemic, due to low porphyrin synthesis, such as microcytic anemia & lymphopenia
In genetic diseases involving pyridoxal phosphate enzymes also xanthurenic aciduria, cystathioninuria & homocystinuria

40. Pyridoxine Deficiency
Prevention:
Rich sources include yeast, whole wheat, corn, egg yolk, liver and lean meat
Toxicity at extremely high doses has been described; infants whose mothers received large doses during pregnancy should be observed for seizures due to dependency
Children receiving INH therapy should be observed for neurologic s/sx in w/c case pyridoxine should be given

41. The Hematopoietic Vitamins

42. Folic Acid (Vitamin B9) Deficiency
Functions:
Needed for RBC & DNA formation, cell multiplication esp. GI cells
Newly discovered functions:
Prevents neural tube defects
Prevents heart disease (reduces homocysteine levels)
Prevents colon cancer

43. Folic Acid (Vitamin B9) Deficiency
Etiology:
Peak incidence 4-7 months
Deficient dietary intake: goat’s milk deficient & powdered milk poor source
Deficient absorption as in celiac disease, achlorhydria, anticonvulsant drugs, zinc deficiency & bacterial overgrowth

44. Folic Acid (Vitamin B9) Deficiency - aetiology
Impaired metabolism w/ ascorbic acid deficiency, hypothyroidism, drugs like trimethoprim & alcoholism
Increased requirement during rapid growth & infection
Increased excretion/loss may occur subsequent to vitamin B12 deficiency & chronic alcoholism
Increased destruction possible in cigarette smoking

45. Folic Acid Deficiency Clinical Manifestations:
Megaloblastic anemia w/ irritability, failure to gain wt & chronic diarrhea
Thrombocytopenic hemorrhages advanced cases
Scurvy may be present

46. Folic Acid Deficiency Laboratory Findings: Anemia macrocytic
Serum folic acid <3ng/ml, normal level=5-20ng/ml
RBC folate levels indicator of chronic deficiency, normal level= ng/ml
Serum iron & vitamin B12 normal or elevated

47. Folic Acid Deficiency Laboratory Findings:
Formiminoglutamic acid in urine esp after oral histidine
Serum LDH markedly high
Bone marrow hypercellular

48. Folic Acid Deficiency

49. Cobalamine (Vitamin B12) Deficiency
Absorption: Vitamin B12 + glycoprotein (intrinsic factor) from parietal cells of gastric fundus  terminal ileum absorption + intrinsic factor + Ca++  blood
Function: Needed in reactions affecting production of methyl groups

50. Cobalamine (Vitamin B12) Deficiency
Etiology:
Congenital Pernicious Anemia: Lack of secretion of intrinsic factor by stomach manifest at 9 months-10 years as uterine stores become exhausted
Inadequate intake or dietary deficiency rare
Strict vegetarian diet
Not commonly seen in kwashiorkor or marasmus
Breast-fed infants whose mothers had deficient diets or pernicious anemia
Consumption or inhibition of the B12-intrinsic factor complex
Vitamin B12 malabsorption from disease of ileal receptor sites or other intestinal causes

51. Cobalamine Deficiency
Clinical Manifestations:
Megaloblastic anemia that becomes severe
Neurological includes ataxia, paresthesias, hyporeflexia, Babinski responses, clonus & coma
Tongue smooth, red & painful

52. Cobalamine Deficiency
Laboratory Findings:
Anemia macrocytic
Serum vitamin B12 <100pg/ml but serum iron & folic acid normal or elevated
Serum LDH activity markedly increased
Urinary excess of methylmalonic acid, a reliable & sensitive index

53. Cobalamine Deficiency
Laboratory Findings:
Schilling test to assess the absorption of vitamin B12:
Normal person ingests small amount of radioactive vitamin B12  none in urine **If flushing dose injected parenterally, 1000mcg of non-radioactive vitamin B12  10-30% of previous radioactive vitamin B12 appears in the urine
Pernicious anemia  2% or less **If modified: 30 mg intrinsic factor administered along  normal amounts
Disease of ileal receptor sites or other intestinal causes  no improvement even w/ intrinsic factor

54. Cobalamine Deficiency

55. Ascorbic Acid (Vitamin C) Deficiency Scurvy
Functions:
Collagen is the major connective tissue in the body & hydroxyproline, found only in collagen, is formed from proline requiring ascorbic acid
If there is defective collagen formation, endochondral bone formation stops since oste, intercellular substance is no longer formed
Vitamin C is involved in hydroxylation reactions in the synthesis of steroids and epinephrine
Ascorbic acid also aids iron absorption by reducing it to ferrous state in the stomach,
spares vitamin A, vitamin E and some B vitamins by protecting them from oxidation, and enhances the utilization of folic acid by aiding the conversion of folate to tetrahydrofolate

56. Ascorbic Acid (Vitamin C) Deficiency Scurvy
Etiology:
More common 6-24 months
May develop in breastfed infant if mother’s diet deficient
Improper cooking practices produce significant nutrient losses & faulty dietary habits

57. Ascorbic Acid Deficiency (Scurvy)
Clinical Manifestations:
Early stages are vague symptoms of irritability, digestive disturbances & anorexia
Mild vitamin C deficiency signs include ecchymoses, corkscrew hairs and the formation of petechiae due to increased capillary fragility resulting from weakened collagen fibrils
Severe deficiency results in decreased wound healing, osteoporosis, hemorrhaging, bleeding into the skin and friable bleeding gums with loosened teeth
A presenting feature is an infant w/ painful,
immobile legs (pseudoparalysis),
edematous in “frog position” & occasionally w/ mass

58. Ascorbic Acid Deficiency (Scurvy)
Clinical Manifestations:
There is depression of sternum w/ a “rosary of scorbutic beads at the costochondral junction due to subluxation of the sternal plate
Orbital or subdural hemorrhages, melena & hematuria may be found
Low grade fever & anemia usually present
Impairment of growth & development

59. Ascorbic Acid Deficiency (Scurvy)
Diagnosis:
History of vitamin C-deficient diet
Clinical picture
Therapeutic test

60. Diagnosis: X-ray findings in the long bones:
Most prominent & early change is simple knee atrophy
Shaft trabeculae cannot be distinguished giving “ground glass appearance”
Cortex reduced to “pencil-point thinness”
Zone of well-calcified cartilage, white line of Fraenkel, seen as irregular & thickened white line w/c
Zone of rarefaction, a linear break in bone proximal & parallel to white line under at metaphysis
Calcifying subperiosteal hemorrhages cause bone to assume a dumb-bell or club shape

61. Ascorbic Acid Deficiency (Scurvy)

62. Ascorbic Acid Deficiency (Scurvy)

63. Be master of your habits, Or they will master you.