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Nutrition Flashcards

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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
Tryptophan is metabolized to?
Serotonin, melanin, and niacin Alternatively, alanine (glucogenic) and acetoacetyl CoA (ketogenic)
26
Phenylketonuria (PKU)
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
27
Vitamin A - function
Vision + maintenance of conjunctiva and cornea
28
Vitamin A - sources
Preformed retinyl palmitate from animal sources - liver, egg yolks, dairy, fish oil Precursor beta-carotene from plants - spinach, carrots, broccoli, pumpkin
29
Vitamin A - deficiency
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
30
Vitamin A - toxicity
**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!
31
Vitamin D - function
- hormone; plasma membrane - maintains intra/extracellular Ca2+ - immune function - regulates cell growth and differentiation
32
Vitamin D - sources
UVB light --> cholecalciferol D3 in skin D3 - fatty fish, egg yolks D2 - plant algae, yeast
33
Vitamin D - metabolism
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
Vitamin D - deficiency
Definition: rickets ( osteoporosis
35
Vitamin E - function
Antioxidant, scavenges free radicals, stabilizes cell membranes
36
Vitamin E - sources
Vegetable oils, corn, nuts, wheat germ
37
Vitamin E - deficiency
IRREVERSIBLE NEUROLOGIC DEGENERATION - loss of DTRs - loss of coordination - loss of vibration & proprioception - spinocerebellar ataxia - neuropathy Hemolytic anemia
38
Vitamin K - function
Carboxylation of clotting factor proteins
39
Vitamin K - sources
Leafy greens (kale), broccoli, fruits, seeds, beef liver
40
Vitamin K - deficiency
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
Thiamine (Vitamin B1)
Found in pork, legumes Deficiency leads to beriberi
42
Beriberi
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
Who is at risk for a thiamine deficiency?
- alcoholics - s/p bariatric surgery - TPN - anorexia - re-feeding - endemic in S. Asia Infants present with vomiting, ophthalmoplegia
44
Riboflavin (Vitamin B2)
Found in dairy, animal products Deficiency can lead to cheilosis (cracking of the lips) and angular stomatitis
45
Niacin (Vitamin B3)
Found in animal products Leads to pellagra
46
Pellagra
Result of niacin (B3) deficiency THE 4 D'S: - Diarrhea - Dermatitis (scaling, de/hyperpigmentation, aggravated by sun exposure) - Dementia - Death
47
Folate
Function: single C transfers, methylation, nucleic acid + amino acid synthesis Found in: "foliage" aka deep green veggies, orange juice, enriched whole grains
48
Sx of folate deficiency
- 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
Vitamin B12 (cobalamin)
Functions: - reform THF from methylfolate (synthesis of methionine) - catabolism of odd chain length fatty acids - lipid & carb metabolism
50
What is the first key regulated step in purine synthesis?
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
Severe combined immunodeficiency (SCID)
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
Gout
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
Lesch-Nyhan Syndrome
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
Maternal PKU
Microcephaly, low birth weight, mental retardation, and malformations in infants of mothers with poorly controlled PKU
55
Tyrosinemia Type I
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
CBS deficiency
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
What is the pharmacotherapy used in urea cycle disorders?
Ammonia scavenging agents: Sodium phenylacetate + sodium benzoate (Ammonul) These molecules scavenge ammonia, create water-soluble products that are excreted in the urine
58
What are the metabolic derangements that can occur in re-feeding syndrome?
- 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
Metabolic Syndrome
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
What is the "hunger center" of the brain?
Lateral nucleus Knock this out, mice stop eating
61
What is the "satiety center" of the brain?
Ventromedial nucleus Knock this out, mice can't stop eating
62
Leptin
NEGATIVE effects on hunger Secreted when you have excess body fat --> tells brain to stop eating, stimulates catabolic pathways
63
NPY + AgRP
Stimulates hunger and food intake
64
PYY
Satiety hormone (probably). Levels rise after a meal.
65
alpha MSH
Catabolism + decrease food intake
66
Patient is ambivalent about changing their health/diet
Motivational interviewing
67
Patient is pre-contemplative/contemplative
Stages of Change
68
Patient is motivated to change, but wants the "nuts and bolts" for how to do it
CBT
69
Patient has thought about it, doesn't want to change
Health belief model
70
Underweight
Low weight-for-age
71
Stunting
Low length-for-age
72
Wasting
Decreased WEIGHT relative to LENGTH
73
Phentermine
Cheapest Only FDA approved for 3 months use
74
Orlistat
Safest (OTC) Inhibits fat absorption by 30%
75
Lorcasarin
Least side effects Moderately effective. Serotonin 2C receptor agonist
76
Phentermine/Topiramate
Most effective (10-12% weight loss)
77
Naltrexone/Bupropion
Intermediate in effectiveness & side effects
78
Patient has other priorities than health, doesn't consider it to be a major priority
Values based counseling

DEMS (4 decks)

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