Clinical Nutrition

Question 1

Metabolic syndrome

Answer 1

One of:
- diabetes mellitus, impaired glucose tolerance, impaired fasting glucose, insulin resistance
AND
Two of:
- blood pressure >140/90 (or on BP med), Dyslipidemia (ele LDL or low HDL), central obesity, microalbuminuria

Question 2

acanthosis nigricans

Answer 2

brownish velvety rash associated with diabetes

Question 3

corneal arcus

Answer 3

white/gray ring around iris, formed by cholesterol and assoc with HLD

Question 4

Xanthelasma palpebrarum

Answer 4

fatty deposits along eyelids associated with HLD

Question 5

Insulin regulation in metabolic syndrome

Answer 5

peripheral tissues are insulin resistant
- hormone sensitive lipase is activated
- increased FA from adipocytes
Insulin is overproduced –> gluconeogenesis is inhibited
FA synthesis is stimulated
increased insulin and insulin resistance increase FA and TAG synthesis in liver –> Fat deposition in liver and dyslipidemia!!!

Question 6

Hartnup Disease

Answer 6

affects absorption of nonpolar amino acids, especially TRYPTOPHAN

• treat w/ high protein diet (increase available FA so they can absorb a normal amount)
• symp: diarrhea, scaly rash (usually when exposed to sunlight - red and splotchy), photosensitivity, short stature, uncoordinated movements

Question 7

Maple syrup urine disease - MSUD

Answer 7

Sweet swelling urine

• branched-chain ketoacid dehydrogenase deficiency (leucine, isoleucine, valine)
• treatment = low protein diet
• Symp: poor feeding, vomiting, lack of energy (lethargy), abnormal movements, delayed development, may lead to seizures, coma, death

Question 8

Phenylketoneuria - PKU

Answer 8

• phenylalanine dehydrogenase deficiency
• autosomal recessive
• symp: intellectual disorders, seizures, musty smelling urine/sweat (phenylacetate)
• treatment: low protein diet - can’t break down properly
• phenyllactate and phelacetate disrupt neurotransmission and block amino acid transport in the brain as well as myelin formation –> severe impairment of brain function
• infants are normal at birth (mother metabolized extra phenylalanine until birth)

Question 9

Albinism

Answer 9

absence or defect of tyrosinase
( no melanin)
- sunburns and skin cancer, photophobia, nystagmus, amblyopia

Question 10

Galactokinase

Answer 10

juvenile cataracts

- decreased conversion of galactose to galactose 1-P by galactokinase

Question 11

Malignant hyperphenylalanemia

Answer 11

dihydropterine reducterase deficiency
- impaired renewal of tetrahydrobiopterin
- decreased levels of dopamine, serotonin and folate
sympt: psychomotor delay, hypotonia, seizures, abnormal movements, too much salivation, swallowing difficulties
Treat: BH4 and folate, no phenylalanine in diet, meds to restore neurotransmitters in the brain

Question 12

Krabbes disease

Answer 12

galactosylceramidase deficiency
- impairment of GALC gene
- GALC hydrolyzes galactosylceramide - an important component of myelin
Sympt: hypertonia/spasticity, impaired development, optic atrophy and blindness, unexplained fevers, seizures, irritability, eating problems, deafness
Treat: anticonvulsant meds for seizures, muscle relaxant for muscle spasms, physical therapy to slow deterioration of muscles, OT for older children, bone marrow transplant

Question 13

GALT (galactose-1 phosphate uridyl transferase)

Answer 13

failure to metabolize galactose/lactose into glucose

• backup of galactose causes symptoms
  symp: feeding difficulties, liver damage, abnormal bleeding, lethargy, sepsis, failure to thrive, developmental delay, jaundice, catacts, and premature ovarian insufficiency in females
  treat: eliminate lactose and galactose from diet (dairy products, avocados, and sugar beets)

Question 14

Kwashiorkor malnutrition

Answer 14

severe protein deficiency (sufficient calories but not sufficient protein) usually occurs after weaning followed by high carb diet
- edema of hands and feet, anemia, irritable, enlarged fatty liver, light colored skin, thinning hair, distended abdomen, shiny skin, ulcerating dermatoses, poor appetite

Question 15

Marasmus malnutrition

Answer 15

Protein and calorie deficiency, emaciated
- chronic diarrhea, respiratory infections, intellectual disability, stunted growth, apathy, no energy
weight is less than 62% of expected, good appetite

Question 16

Vitamin A deficiency

Answer 16

hyctalopia (night blindness), xeropthalmia (failure to produce tears)
- major player in phototransduction

Question 17

Vitamin B1 (thiamine) deficiency

Answer 17

malaise, weight loss, confusion
Beriberi
(wet) - fast heart rate, SOB, difficulty moving the legs, pain
(dry) - numbness, confusion, difficulty moving legs
Wernicke-Korsakoff syndrome (assoc with alcoholics)
- vision changes, ataxia, impaired memory

Question 18

Vitamin B12 (Cobalamin) deficiency

Answer 18

• important in DNA synthesis and nerves
• fatigue, inflammation of the tongue (+decreased taste), numbness/tingling
• megaloblastic anemia
• milk, eggs, fortified in cereals

Question 19

Vitamin C deficiency (scurvy)

Answer 19

• fatigue, SOB, dizziness, pale yellowish skin, irregular heart rate, weight loss, numbness or tingling in the hands and feet, muscle weakness, personality changes, unsteady movements, mental confusion or forgetfulness

Question 20

Vitamin K (deficiency)

Answer 20

easy bruising, oozing from nose or gums

• excessive bleeding from injuries, heavy menstrual periods, bleeding from GI tract, blood in urine and/or stool, increased prothrombin time
• bacteria usually makes our Vit K. antibiotics may kill some off and we lose that production

Question 21

Vitamin B2 (ribovlavin) deficiency

Answer 21

stomatitis (inflammation on either side of the mouth), sore throat, chapped lips, oily/scaly rashes on scrotum, vulva, philtrum of lip, nasolabial folds, itchy watery bloodshot eyes, sensitivity to light
- normocytic normochromic anemia

Question 22

Vitamin B3 (niacin) deficiency

Answer 22

• mild deficiency –> indigestion, canker sores, vomiting, depression
• Severe deficiency (pellagra) –> thick, scaly pigmented rash on skin exposed to sunlight, swollen mouth and tongue, vomiting and diarrhea, headache, apathy, depression, disorientation, memory loss

Question 23

Vitamin B6 (pyroxidine) deficiency

Answer 23

• microcytic anemia, EEG abnormalities, dermatitis w/ cheilosis (scaling on lips and cracks at the corners of the mouth) glossitis (inflammation of the tongue), depression, confusion, weakened immune function

Question 24

Vitamin D deficiency

Answer 24

symptoms may be suble to none

• risks: increased risk from cardiovascular disease, cognitive impairment in older adults, severe asthma in children
• cancer, depression, schizophrenia, osteoporosis

Question 25

Vitamin E deficiency

Answer 25

digestive system requires fat to absorb vitamin E
defective GI system (abetalipoproteinemia, chrons disease, cystic fibrosis, AVED - ataxia and vitamin E deficiency) may lead to deficiency
- sympt: peripheral neuropathy, ataxia, skeletal myopathy, retinopathy, immune impairment, infertility