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DEMS > Nutrition > Flashcards

Nutrition Flashcards

1
Q

Adult onset, big liver/spleen, anemia/low platelets

Increased in Ashkenazi Jews

Erlenmeyer flask deformity on X-ray

A

Gaucher Type 1

Treatment available

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2
Q

What are the 3 lysosomal storage diseases that are not inherited in an AR pattern?

A

Fabry (XD)
Hunter (XR)
Danon (XD)

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3
Q

Gaucher Type 1

A

Adult onset, HSM, anemia/thrombocytopenia, Erlenmeyer flask deformity (X-ray)

Incr in Ashkenazi Jews

Beta glucosidase/glucocerebrosidase

Enzyme replacement treatment available

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4
Q

Beta-hexosaminidase A

A

Tay Sachs Type I

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5
Q

Cherry red spot on the retina, increased startle reflex, normal liver/spleen

A

Tay Sachs Type 1

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6
Q

Tay Sachs Type 1

A

Cherry red spot in the retina, increased startle reflex, normal liver/spleen

Beta-hexosaminidase A

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7
Q

Alpha galactosidase

A

Fabry disease

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8
Q

Adult male with angiokeratomas (bathing trunk distribution) + acroparesthesias (pain in palms and soles) + family hx of renal failure in males + normal IQ

A

Fabry disease

Treatment available

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9
Q

Infant with profound weakness and hypertrophic CM
Or
Adult with proximal muscle weakness and sleep apnea

A

Pompe Disease

Treatment available

Infantile: major muscle weakness and HCM

Adult: gradual proximal muscle weakness with normal heart + respiratory failure

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10
Q

Alpha-glucosidase

A

Pompe Disease

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11
Q

Coarse-appearing male child, short, hoarse voice, frequent URIs, some learning difficulties, NO cornea clouding

A

Hunter

X-linked inheritance

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12
Q

Coarse-appearing boy or girl, short, HSM, major skeletal problems, cognitive decline, corneal clouding

A

Hurler

Treatment available

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13
Q

Alpha iduronidase

A

Hurler

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14
Q

Iduronate sulfatase

A

Hunter

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15
Q

Muscle cramping after exercise, myoglobinuria (coffee colored urine after exercise)

A

McArdle

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16
Q

Glycogen phosphorylase

A

McArdle

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17
Q

Beta glucosidase (glucocerebrosidase)

A

Gaucher Type 1

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18
Q

What molecule holds the amine group during its transfer in transamination?

A

PLP (pyridoxal phosphate)

Derivative of Vitamin B6

In the resting state, PLP forms a Schiff base with the aminotransferase

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19
Q

Maple syrup urine disease

A

Missing/malfunctioning enzyme: branched-chain α-keto acid dehydrogenase complex

Meaning, once the branched chain amino acids have had their amino groups turned into ketone groups, this enzyme would then further attach an acetyl CoA group.

Leads to high concentrations of branched chain keto acids in urine, giving it characteristic odor.

Branched chain aa are: valine, leucine, and isoleucine

Val = glucogenic
Leu = ketogenic
Ile = both
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20
Q

SAM

A

S-adenosylmethionine

High energy activated sulfur molecule

Made from methionine by SAM synthase (ATP-dependent rxn)

SAM METHYLATES*

More prevalent than ATP!

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21
Q

Where does homocysteine come from?

A

Methionine –> SAM –> –> homocysteine

Which eventually turns into cysteine

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22
Q

What are the 2 coenzymes that will regenerate methionine from homocysteine?

A

1) THF (tetrahydrofolate)

2) Vitamin B12

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23
Q

Methotrexate

A

Knocks out tetrahydrofolate (THF)

THF is essential for the synthesis of amino acids & nucleic acids. Thus, serves to stop fast-growing cells = cancer drug.

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24
Q

Glutathione (GSH)

A

Glutamate-Cysteine-Glycine

Tripeptide molecule that can form disulfides (via Cys)

Functions:

  • redox buffer
  • cofactor for several enzymes
  • protection against radical oxidizing species
  • allows for proper protein folding in the ER
  • keeps iron in Fe2+ form for hemoglobin
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25
Q

Tryptophan is metabolized to?

A

Serotonin, melanin, and niacin

Alternatively, alanine (glucogenic) and acetoacetyl CoA (ketogenic)

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26
Q

Phenylketonuria (PKU)

A

Deficiency in phenylalanine hydroxylase

Enzyme converts phenylalanine into tyrosine

BH4 is a cofactor

Phenotype: hyperphenylalaninemia
Severe classic PKU: plasma Phe > 1200 uM
Goals of treatment: 300-400

If uncontrolled: mental retardation & autistic behaviors; white matter hyperintensities (pseudoleukodystrophy); seizures

Long-term tx: restrict Phe, but do not eliminate it

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27
Q

Vitamin A - function

A

Vision + maintenance of conjunctiva and cornea

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28
Q

Vitamin A - sources

A

Preformed retinyl palmitate from animal sources - liver, egg yolks, dairy, fish oil

Precursor beta-carotene from plants - spinach, carrots, broccoli, pumpkin

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29
Q

Vitamin A - deficiency

A

Xerophthalmia (dry eyes), Bitot’s Spots (foamy cloudy patches), night blindness –> total blindness

Epithelium flat, dry, and keratinized

  • *Impaired immune response in the setting of Vit A deficiency**
  • particularly for GI illnesses, measles
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30
Q

Vitamin A - toxicity

A

Can only happen with preformed retinyl palmitate, NOT precursor beta-carotene

Sx: vomiting, incr ICP, headache, bone pain, liver damage/hepatitis –> failure, death, birth defects

Accutane!

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31
Q

Vitamin D - function

A
  • hormone; plasma membrane
  • maintains intra/extracellular Ca2+
  • immune function
  • regulates cell growth and differentiation
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32
Q

Vitamin D - sources

A

UVB light –> cholecalciferol D3 in skin

D3 - fatty fish, egg yolks
D2 - plant algae, yeast

33
Q

Vitamin D - metabolism

A

Absorbed via chylomicrons (requires fat absorption)

Hydroxylated in liver to 25 OH Vit D

Hydroxylated again in kidney to 1,25 OH Vit D (calcitriol) = active form

34
Q

Vitamin D - deficiency

A

Definition: rickets ( osteoporosis

35
Q

Vitamin E - function

A

Antioxidant, scavenges free radicals, stabilizes cell membranes

36
Q

Vitamin E - sources

A

Vegetable oils, corn, nuts, wheat germ

37
Q

Vitamin E - deficiency

A

IRREVERSIBLE NEUROLOGIC DEGENERATION

  • loss of DTRs
  • loss of coordination
  • loss of vibration & proprioception
  • spinocerebellar ataxia
  • neuropathy

Hemolytic anemia

38
Q

Vitamin K - function

A

Carboxylation of clotting factor proteins

39
Q

Vitamin K - sources

A

Leafy greens (kale), broccoli, fruits, seeds, beef liver

40
Q

Vitamin K - deficiency

A

Prolonged coag time

Hemorrhagic disease of the newborn

–> all newborns are given 1 mg IM once, because it does not cross the placenta well

41
Q

Thiamine (Vitamin B1)

A

Found in pork, legumes

Deficiency leads to beriberi

42
Q

Beriberi

A

Result of thiamine deficiency. Results in NS and CV problems.

Dry: peripheral neuropathy, foot drop, muscle tenderness (esp legs). Eventual inability to walk without falling.

Wet: edema, circulatory collapse, CHF

Wernicke-Korsakoff Syndrome

43
Q

Who is at risk for a thiamine deficiency?

A
  • alcoholics
  • s/p bariatric surgery
  • TPN
  • anorexia
  • re-feeding
  • endemic in S. Asia

Infants present with vomiting, ophthalmoplegia

44
Q

Riboflavin (Vitamin B2)

A

Found in dairy, animal products

Deficiency can lead to cheilosis (cracking of the lips) and angular stomatitis

45
Q

Niacin (Vitamin B3)

A

Found in animal products

Leads to pellagra

46
Q

Pellagra

A

Result of niacin (B3) deficiency

THE 4 D’S:

  • Diarrhea
  • Dermatitis (scaling, de/hyperpigmentation, aggravated by sun exposure)
  • Dementia
  • Death
47
Q

Folate

A

Function: single C transfers, methylation, nucleic acid + amino acid synthesis

Found in: “foliage” aka deep green veggies, orange juice, enriched whole grains

48
Q

Sx of folate deficiency

A
  • Macrocytic anemia
  • Hypersegmented neutrophils
  • Glossitis
  • Irritability
  • Homocysteinemia

Neural tube defects in pregnant women not taking supplements

Women of child-bearing age advised to have intake of 400-800 ug/day

49
Q

Vitamin B12 (cobalamin)

A

Functions:

  • reform THF from methylfolate (synthesis of methionine)
  • catabolism of odd chain length fatty acids
  • lipid & carb metabolism
50
Q

What is the first key regulated step in purine synthesis?

A

Combining the ribose sugar with PRPP synthetase to make PRPP (ribose + phosphate)

Requires ATP (duh)

Ribose sugar comes from HMP pathway

Inhibited by purine nucleotides (neg feedback)

51
Q

Severe combined immunodeficiency (SCID)

A

ADA (adenosine deaminase) deficiency

If ADA is missing, dAMP builds up –> converts to dATP –> blocks the action of ribonucleotide reductase –> prevents the synthesis of other dNTPs

Leads to T-cell and B-cell depletion (lymphocytopenia)

52
Q

Gout

A

Disease characterized by accumulation of uric acid (product of purine degradation)

Arthritic joint inflammation is caused by deposition of monosodium urate crystals (birefringent)

Tx: allopurinol. Inhibits xanthine oxidase, resulting in accumulation of products more soluble than uric acid

53
Q

Lesch-Nyhan Syndrome

A

X-linked recessive

Deficiency of hypoxanthine-guanine phosphoribosyltransferase = inability to recycle hypoxanthine –> IMP or guanine –> GMP

Thus, these people need to do a lot of de novo purine synthesis

This results in excessive uric acid, plus characteristic neurological features including self-mutilation and involuntary movements

54
Q

Maternal PKU

A

Microcephaly, low birth weight, mental retardation, and malformations in infants of mothers with poorly controlled PKU

55
Q

Tyrosinemia Type I

A

Fumarylacetoacetate hydrolase (FAH) deficiency –> liver and kidney damage

Presents in 3 forms:

  • early in infancy w/ liver disease, failure
  • late infancy with rickets due to renal tubulopathy
  • porphyria-like attack at any age

Px: palmoplantar keratosis, dendritic figures in the eye (oculocutaneous tyrosinemia)

56
Q

CBS deficiency

A

Causes hypermethioninemia, homocysteinuria

(CBS is the enzyme that converts homocysteine into the next product –> eventually cysteine)

Untreated homocystinuria = marfanoid habitus, osteoporosis, scoliosis

50% of mutations are vitamin B6 responsive

Tx: Vitamin B6 challenge; restrict dietary protein; methionine-free medical foods, etc.

57
Q

What is the pharmacotherapy used in urea cycle disorders?

A

Ammonia scavenging agents:

Sodium phenylacetate + sodium benzoate (Ammonul)

These molecules scavenge ammonia, create water-soluble products that are excreted in the urine

58
Q

What are the metabolic derangements that can occur in re-feeding syndrome?

A
  • Low K
    Insulin drives K into cells
  • Low P
    Insulin drives P into cells
  • Low Mg
    Mg is needed with increased metabolic rate
  • Low thiamine
    Cofactor in glycolysis. Can lead to cardiomyopathy +/- encephalopathy
59
Q

Metabolic Syndrome

A

3+ of these factors must be present:

  • abdominal waist circumference >40 in (men) and >35 in (women)
  • TGs >150
  • HDL 130/>85
  • Fasting glucose >100
60
Q

What is the “hunger center” of the brain?

A

Lateral nucleus

Knock this out, mice stop eating

61
Q

What is the “satiety center” of the brain?

A

Ventromedial nucleus

Knock this out, mice can’t stop eating

62
Q

Leptin

A

NEGATIVE effects on hunger

Secreted when you have excess body fat –> tells brain to stop eating, stimulates catabolic pathways

63
Q

NPY + AgRP

A

Stimulates hunger and food intake

64
Q

PYY

A

Satiety hormone (probably). Levels rise after a meal.

65
Q

alpha MSH

A

Catabolism + decrease food intake

66
Q

Patient is ambivalent about changing their health/diet

A

Motivational interviewing

67
Q

Patient is pre-contemplative/contemplative

A

Stages of Change

68
Q

Patient is motivated to change, but wants the “nuts and bolts” for how to do it

A

CBT

69
Q

Patient has thought about it, doesn’t want to change

A

Health belief model

70
Q

Underweight

A

Low weight-for-age

71
Q

Stunting

A

Low length-for-age

72
Q

Wasting

A

Decreased WEIGHT relative to LENGTH

73
Q

Phentermine

A

Cheapest

Only FDA approved for 3 months use

74
Q

Orlistat

A

Safest (OTC)

Inhibits fat absorption by 30%

75
Q

Lorcasarin

A

Least side effects

Moderately effective. Serotonin 2C receptor agonist

76
Q

Phentermine/Topiramate

A

Most effective (10-12% weight loss)

77
Q

Naltrexone/Bupropion

A

Intermediate in effectiveness & side effects

78
Q

Patient has other priorities than health, doesn’t consider it to be a major priority

A

Values based counseling

DEMS (4 decks)

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