Clinical Nutrition Flashcards
Metabolic syndrome
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
acanthosis nigricans
brownish velvety rash associated with diabetes
corneal arcus
white/gray ring around iris, formed by cholesterol and assoc with HLD
Xanthelasma palpebrarum
fatty deposits along eyelids associated with HLD
Insulin regulation in metabolic syndrome
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!!!
Hartnup Disease
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
Maple syrup urine disease - MSUD
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
Phenylketoneuria - PKU
- 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)
Albinism
absence or defect of tyrosinase
( no melanin)
- sunburns and skin cancer, photophobia, nystagmus, amblyopia
Galactokinase
juvenile cataracts
- decreased conversion of galactose to galactose 1-P by galactokinase
Malignant hyperphenylalanemia
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
Krabbes disease
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
GALT (galactose-1 phosphate uridyl transferase)
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)
Kwashiorkor malnutrition
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
Marasmus malnutrition
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
Vitamin A deficiency
hyctalopia (night blindness), xeropthalmia (failure to produce tears)
- major player in phototransduction
Vitamin B1 (thiamine) deficiency
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
Vitamin B12 (Cobalamin) deficiency
- important in DNA synthesis and nerves
- fatigue, inflammation of the tongue (+decreased taste), numbness/tingling
- megaloblastic anemia
- milk, eggs, fortified in cereals
Vitamin C deficiency (scurvy)
- 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
Vitamin K (deficiency)
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
Vitamin B2 (ribovlavin) deficiency
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
Vitamin B3 (niacin) deficiency
- 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
Vitamin B6 (pyroxidine) deficiency
- 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
Vitamin D deficiency
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
