CIS Nutrition Test 2 Flashcards

1
Q

Galactokinase Deficiency

A

Juvenile cataracts present due to decrease conversation of galactose to galactose-1-phosphate

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2
Q

Dihydopteridine Reductase deficiency

A

Impaired renewal of tetrahydrobiopterin and decreased levels of dopamine, serotonin and folate.

Symptoms are psychomotor delay hypotonia seizures ataxia salivation and swallowing difficulties

Tx with BH4 and folate NO phenylalanine take meds to restore NT in the brain

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3
Q

Galactosycleramidase

A

Impairment of GALC gene results in Krabbes disease. Galactosylceramidase hydrolyzes galactosyceramide which is part of myelin sheath.

Symptoms include hypertonia seizures, irratibiltiy, optic atrophy and blindness, unexplanined fevers eating difficulties

Tx: anticonvulsant meds, mm relaxer, OT, bone marrow transport, PT

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4
Q

GALT

A

Failure to metabolize lactose and galactose into glucose. Accumulation of galactose causes symptoms:

Feeding diffficulties lethargy liver damage jaundice cataracts sepsis

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5
Q

Kwashiorkor

A

Severe protein deficiency but with sufficient calories. Edema of hand and feet light colored skin thinning hair and distended abdomen and ulcerating dermatosis. Hepatomegaly with fats

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6
Q

Marasmus

A

Protein calorie deficiency results in emancipation, respiratory infections, diarrhea, apathy and stunted growth

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7
Q

Vitamin A deficiency

A

Results in Nyctalopia (bight blindness) Xerophthalmia (inability for tears) Changes light into electrical signals with Rhodopsin

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8
Q

B1 (Thiamine ) Deficiency

A

Symptoms include malaise, weight loss, confusion, beriberi.

Wet Beriberi: fast heart rate short breath difficulty moving legs, pain
Dry Beriberi: numbness and confusion difficulty moving legs

Wernicke Korsakoff syndrome: vision changes ataxia impaired memory

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9
Q

B12 Deficiency

A

Results in fatigue inflammation of tongue decreased taste- tongue looks smooth,
Numbness/ tingling and megaloblastic anemia

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10
Q

Vitamin C deficiency

A

Fatigue shortness of breath, gums very low, dizziness, pale skin, irregular heart beat, numbness or tingling in hands and feet, mm weakness, personality changes, unsteady movement mental confusion

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11
Q

Vitamin K deficiency

A

Easy bruising oozing from nose or gums heavy periods bleeding from GI blood in urine or stool increased Prothrombin time

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12
Q

Riboflavin B2 deficiency

A

Stomatitis, sore throat, chapped fissured lips, oily scaly rashes on scrotum and vulva above lip and nasolabial folds. Itchy blood shot eyes, sensitivity to light and normocytic anemia

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13
Q

B3 Niacin deficiency

A

Indigestion fatigue canker sores vomit and depression with mild deficiency

Severe deficiency is called pellagra. Thick scaly pigmented rash with sunlight

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14
Q

Pyridoxine B6 deficiency

A

Microcytic anemia, electroencephalographic abnormalities, Dermatitis with chills, glossitis, depression confusion and weakened immune Fxn

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15
Q

Vitamin D deficiency

A

Subtle to no symptoms although the risk of heart disease death cognitive impairment increase, Severe asthma in children, cancer risk increases

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16
Q

Vitamin E deficiency

A

Abetalipoproteinemia chrons disease CF and AVED

Symptoms are peripheral neuropathy ataxia skeletal myopathy immune impairment infertility