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AANIYA PATH > Aani CP: Nutrition and metab > Flashcards

Aani CP: Nutrition and metab Flashcards

1
Q

Where is Vit A stored?

A

Adipose tissue (fat soluble). Vit A is Retinol

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2
Q

What is Retinol?

A

Vit A

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3
Q

What can lack of retinol (vit A) cause?

A

Rod production impaired: Colour blindness or night blindness
Bitot’s spots
Dry hair and skin

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4
Q

How do you test for Vit A deficiency?

A

Serum Vit A/Retinol levels

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5
Q

What can excess Vit A cause?

A

Exfoliation hepatitis

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6
Q

What is Vit D? (another name)

A

Cholecalciferol

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7
Q

What can Vit D deficiency cause?

A

Rickets/osteomalacia

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8
Q

How do you measure Vit D deficiency?

A

Serum levels of pre-activated (25,hydroxyvit D)

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9
Q

What causes Pallegra?

A

Vit B3 deficiency (Niacin)

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10
Q

What is Niacin?

A

Vit B3

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11
Q

How do you cure Wernicke Syndrome?

A

Pabrinex

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12
Q

What can be caused by low B1 (thiamin)?

A

Wernicke’s encephalopathy Syndrome: triad of confusion, ophthalmoplegia, ataxia
Beri Beri - wet or dry. Wet: oedema, cardiomegaly, dyspnoea. Dry: Ascending neuropathy
Kosafoff’s Syndrome: Irreversible confabulation, memory loss, lack of insight

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13
Q

What is Vit B6?

A

Pyridoxine

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14
Q

What can be caused by low B6/Pyridoxine?

A

Seborrhoeic Dermatitis
Sideroblastic Anaemia

Can be caused by TB treatment with izoniazid

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15
Q

What can lack of Vit K cause?

A

Defective clotting/bleeding: ecchymosis, petechiae, haematomas, slow healing wounds

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16
Q

How can you test for Vit K deficiency?

A

PT or INR

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17
Q

What can low Vit E cause?

A

Haemolytic Anaemia
Increased risk of IHD
Areflexia & Ataxia

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18
Q

What can low B3/Niacin cause?

A

Pallegra (4 Ds Diarrhoea/Dermatitis/Dementia/Death)

Dermatitis: Casal’s necklace distribution

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19
Q

What is pallegra? How is it caused?

A

Caused by lack of B3/Niacin - leads to 4 Ds; diarrhoea, dementia, dermatitis. death
Dermatitis: Casal’s necklace distribution

MALNUTRITION (esp protein)
Need a deficiency in niacin AND tryptophan for Pallegra to ensue because tryptophan can be converted into protein

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20
Q

How to test for B1/thiamin deficiency?

A

RBCs or Transkelotase

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21
Q

What is Vit B2?

A

Riboflavin

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22
Q

What can low Vit B2/Riboflavin cause?

A

Glossitis, angular stomatitis, corneal ulceration

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23
Q

How to test for Low B2/Riboflavin?

A

RBCs and glutathion reductase

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24
Q

How do you test for low B6/Pyridoxine?

A

RBC AST activation

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25
Q

What is Vit B12?

A

Cobalamin

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26
Q

What can low Vit B12 cause?

A
  • Pernicious Anaemia –> megaloblastic anaemia with hypersegmented neutrophils
  • Degeneration of the cord –> babinski sign +
  • Ass. with other autoimmune conditions
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27
Q

How to test for B12 deficiency?

A

Shilling test, serum b12

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28
Q

What is Vit C?

A

Ascorbic Acid

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29
Q

What can low Vit C/Ascorbate cause?

A 
Poor collagen formation due to inability to make helices
Scurvy: 
gingivitis
bleeding in skin, joints, gums
Brittle bones
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30
Q

What can excess Vit C cause?

A

Renal stones

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31
Q

What can low folate cause?

A

Megaloblastic anaemia
SACDC (neural tube defects)
Beefy tongue
Peripheral neuropathy

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32
Q

What can low iron cause?

A

Hypochromic anaemia/microcytic

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33
Q

Excess iron can cause…?

A

Haemochromatosis - liver damage, pancreas failure etc

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34
Q

Testing for iron deficiency?

A

Serum Iron
FIBC/transferrin
Ferritin
FBC

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35
Q

What can low iodine cause?

A

Hypothyroidism

Goitre

36
Q

Low Zinc can cause…?

A

Dermatitis

37
Q

Low Copper can cause…?

A

Anaemia

38
Q

Excess copper can cause…?

A

Wilson’s disease

39
Q

How do you test for coopper levels?

A

Caeruloplasmin

40
Q

What can low fluoride cause?

A

Dental caries

41
Q

What are the 4 key Gurthrie test conditions?

A

Phenylketouria
Hypothyroidism
CF
MCADD

42
Q

What is Phenylketouria? What happens?

A

Deficiency in Phenylanaline Hydroxylase. That is needed to breakdown phenylanaline which is toxic. You get an increase is phenylanaline

43
Q

How to test for Phenylketouria?

A

Measure blood phenylanaline levels

44
Q

Tx for Phenylketouria?

A

Give phenylanaline hydroxylase

45
Q

What is the feature of congenital hypothyroidism?

A

Agenesis/dysgenesis of the thyroid gland?

46
Q

How to screen for congenital hypothyroidism?

A

TSH levels

47
Q

What causes CF?

A

Defect in gene coding for CFTR protein (cystic fibrosis transmembrane conductance regulator)

48
Q

What are the symptoms of CF?

A

Chest infections
Productive cough
Diarrhoea
Ductal blockages

49
Q

How to screen for CF?

A

If immune reactive tripsin is high, look for genetic defects

50
Q

What is MCAD?

A

Medium Chain AcylCoA Dehydrogenase Deficiency. Impairment of fatty acid oxidation

51
Q

What happens in MCAD?

A

Impairment of fatty acid oxidation. Medium chains cannot be broken down into AcetylcoA

52
Q

What are the symptoms of MCAD?

A

Hypoglycaemia

Sudden Death

53
Q

Screening for MCAD?

A

Acylcarnitine levels by Mass Spectrometry

54
Q

Why is ammonia build up bad?

A

300+ can lead to coma

55
Q

What are the clinical features of urea cycle disorders?

A

Respiratory alkalosis
Hyperammonia
Vomiting without Diarrhoea

56
Q

Why is ammonia raised in urea cycle disorders?

A

Because the disorders prevent the ammonia from being broken down into urea

57
Q

Treatment of urea cycle disorders?

A

Remove ammonia and reduce protein intake

58
Q

How can you remove ammonia?

A

Sodium benzoate

59
Q

What is galactosaemia?

A

Gal-1-PUT deficiency

60
Q

What are the clinical features of galactosaemia?

Tx?

A 
Hepatomegaly
Cataracts
Mental Handicap
Conjugated hyperbilirubinaemia - jaundice 
Vom & Diarrhoea
Sepsis
Tx: galactose free diet
61
Q

What happens in galactosaemia?

A

Cannot break down galactose due to Gal-1-PUT deficiency. So there will be galactose in the urine. Lactose is broken down into glucose and galactose so it is seen when neonates drink milk.

62
Q

Which organism causes sepsis in galactosaemia?

A

E.Coli

63
Q

What is a clue that someone may have a mitochondria disorder?

A

Multiple systems are affected

64
Q

Types of mitochondria disorder?

A

MELAS
Barth
Kearns-Sayre

65
Q

What is MELAS?

A

Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes

66
Q

What age does MELAS present?

A

5-15

67
Q

What age does Barth present?

A

Birth

68
Q

What age does Kearns-Sayre present?

A

12-30

69
Q

What is the most recognized laboratory abnormality in patients with mitochondrial disorders?

A

Lactic acidosis

70
Q

Why is lactate raised in mitochondria disorders?

A

Because dysfunction in the electron transport chain causes pyruvate to rise which is turned into lactate

71
Q

When should lactate be low in normal people?

A

After fasting

72
Q

When is lactate high in normal people?

A

In hypoxia e.g. after exercise

73
Q

What is the name for Vit E?

A

Tocopherol

74
Q

Symptoms of Phenylketonuria?

A
  • Fair hair (sometimes blue eyes)
  • Low IQ
  • Musty smell/mousy smell
  • Tested for in GUTHRIE test
75
Q

Symptoms of Maple Syrup Urine Disease

A

TRIAD of:

  • lethargy
  • poor feeding
  • hypotonia

Characteristic maple sweet smell, esp in urine.
SWEATY feet

76
Q

How does maple syrup urine disease come about?

A

Inborn error of metabolism of certain AAs:
valine
leucine
isoleucine

77
Q

Test for maple syrup urine disease?

A

Gas chromatography and mass spectrometry

78
Q

Homocystinuria clinical findings?

A 
Brittle hair
Hypopigmentation in skin (pale)
developmental/learning delay
- seizures
- skeletal problems , hard to walk etc
- eye problems
79
Q

management of homocystinuria?

A
  • b6 (pyridoxine)
  • b12
  • folate
  • low methionine diet
80
Q

What happens in homocystinuria?

A

deficiency of cystathionine beta synthetase enzyme, build up of methionine in plasma and homocystine in blood and urea

81
Q

Features of Fabry’s?

A

It’s a lysozomal storage disorder:

  • body dismorphia (abnormality)
  • CHERRY RED SPOT
  • Organomegaly
  • developmental delay
82
Q

Which enzyme is defective in Fabry’s?

A

alpha galactosidase

83
Q

What is Vit B9?

A

Folate

84
Q

What happens in Tyrosinaemia?

A 
Cannot metabolise tyrosine.
There are 3 types.
Type 1 common in Canada/Quebec
Jaundice, failure to thrive, bloody stool CABBAGE smell
Hepatomegaly with liver failure
85
Q

Which pt groups are encouraged to reduce Vit A consumption?

A

Pregnant women.
Vit A can be teratogenic
E.g. found in liver (cos stored in liver)

AANIYA PATH (31 decks)

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