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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
What is Vit B12?
Cobalamin
26
What can low Vit B12 cause?
- Pernicious Anaemia --> megaloblastic anaemia with hypersegmented neutrophils - Degeneration of the cord --> babinski sign + - Ass. with other autoimmune conditions
27
How to test for B12 deficiency?
Shilling test, serum b12
28
What is Vit C?
Ascorbic Acid
29
What can low Vit C/Ascorbate cause?
``` Poor collagen formation due to inability to make helices Scurvy: gingivitis bleeding in skin, joints, gums Brittle bones ```
30
What can excess Vit C cause?
Renal stones
31
What can low folate cause?
Megaloblastic anaemia SACDC (neural tube defects) Beefy tongue Peripheral neuropathy
32
What can low iron cause?
Hypochromic anaemia/microcytic
33
Excess iron can cause...?
Haemochromatosis - liver damage, pancreas failure etc
34
Testing for iron deficiency?
Serum Iron FIBC/transferrin Ferritin FBC
35
What can low iodine cause?
Hypothyroidism | Goitre
36
Low Zinc can cause...?
Dermatitis
37
Low Copper can cause...?
Anaemia
38
Excess copper can cause...?
Wilson's disease
39
How do you test for coopper levels?
Caeruloplasmin
40
What can low fluoride cause?
Dental caries
41
What are the 4 key Gurthrie test conditions?
Phenylketouria Hypothyroidism CF MCADD
42
What is Phenylketouria? What happens?
Deficiency in Phenylanaline Hydroxylase. That is needed to breakdown phenylanaline which is toxic. You get an increase is phenylanaline
43
How to test for Phenylketouria?
Measure blood phenylanaline levels
44
Tx for Phenylketouria?
Give phenylanaline hydroxylase
45
What is the feature of congenital hypothyroidism?
Agenesis/dysgenesis of the thyroid gland?
46
How to screen for congenital hypothyroidism?
TSH levels
47
What causes CF?
Defect in gene coding for CFTR protein (cystic fibrosis transmembrane conductance regulator)
48
What are the symptoms of CF?
Chest infections Productive cough Diarrhoea Ductal blockages
49
How to screen for CF?
If immune reactive tripsin is high, look for genetic defects
50
What is MCAD?
Medium Chain AcylCoA Dehydrogenase Deficiency. Impairment of fatty acid oxidation
51
What happens in MCAD?
Impairment of fatty acid oxidation. Medium chains cannot be broken down into AcetylcoA
52
What are the symptoms of MCAD?
Hypoglycaemia | Sudden Death
53
Screening for MCAD?
Acylcarnitine levels by Mass Spectrometry
54
Why is ammonia build up bad?
300+ can lead to coma
55
What are the clinical features of urea cycle disorders?
Respiratory alkalosis Hyperammonia Vomiting without Diarrhoea
56
Why is ammonia raised in urea cycle disorders?
Because the disorders prevent the ammonia from being broken down into urea
57
Treatment of urea cycle disorders?
Remove ammonia and reduce protein intake
58
How can you remove ammonia?
Sodium benzoate
59
What is galactosaemia?
Gal-1-PUT deficiency
60
What are the clinical features of galactosaemia? | Tx?
``` Hepatomegaly Cataracts Mental Handicap Conjugated hyperbilirubinaemia - jaundice Vom & Diarrhoea Sepsis Tx: galactose free diet ```
61
What happens in galactosaemia?
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
Which organism causes sepsis in galactosaemia?
E.Coli
63
What is a clue that someone may have a mitochondria disorder?
Multiple systems are affected
64
Types of mitochondria disorder?
MELAS Barth Kearns-Sayre
65
What is MELAS?
Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes
66
What age does MELAS present?
5-15
67
What age does Barth present?
Birth
68
What age does Kearns-Sayre present?
12-30
69
What is the most recognized laboratory abnormality in patients with mitochondrial disorders?
Lactic acidosis
70
Why is lactate raised in mitochondria disorders?
Because dysfunction in the electron transport chain causes pyruvate to rise which is turned into lactate
71
When should lactate be low in normal people?
After fasting
72
When is lactate high in normal people?
In hypoxia e.g. after exercise
73
What is the name for Vit E?
Tocopherol
74
Symptoms of Phenylketonuria?
- Fair hair (sometimes blue eyes) - Low IQ - Musty smell/mousy smell - Tested for in GUTHRIE test
75
Symptoms of Maple Syrup Urine Disease
TRIAD of: - lethargy - poor feeding - hypotonia Characteristic maple sweet smell, esp in urine. SWEATY feet
76
How does maple syrup urine disease come about?
Inborn error of metabolism of certain AAs: valine leucine isoleucine
77
Test for maple syrup urine disease?
Gas chromatography and mass spectrometry
78
Homocystinuria clinical findings?
``` Brittle hair Hypopigmentation in skin (pale) developmental/learning delay - seizures - skeletal problems , hard to walk etc - eye problems ```
79
management of homocystinuria?
- b6 (pyridoxine) - b12 - folate - low methionine diet
80
What happens in homocystinuria?
deficiency of cystathionine beta synthetase enzyme, build up of methionine in plasma and homocystine in blood and urea
81
Features of Fabry's?
It's a lysozomal storage disorder: - body dismorphia (abnormality) - CHERRY RED SPOT - Organomegaly - developmental delay
82
Which enzyme is defective in Fabry's?
alpha galactosidase
83
What is Vit B9?
Folate
84
What happens in Tyrosinaemia?
``` 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
Which pt groups are encouraged to reduce Vit A consumption?
Pregnant women. Vit A can be teratogenic E.g. found in liver (cos stored in liver)

AANIYA PATH (31 decks)

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