CIS Nutrition Test 2

Question 1

Galactokinase

Answer 1

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

Question 2

Dihydopteridine Reductase deficiency

Answer 2

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 rain

Associated with Malignant hyper phenylalanine is

Question 3

Galactosycleramidase

Answer 3

Impairment of GALC gene results in Krabbes disease. Galactosylceramidase hydrolysis 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

Question 4

GALT

Answer 4

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

Feeding diffficulties lethargy liver damage jaundice cataracts sepsis

Question 5

Kwashiorkor

Answer 5

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

Question 6

Marasmus

Answer 6

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

Question 7

Vitamin A deficiency

Answer 7

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

Question 8

B1 (Thiamine ) Deficiency

Answer 8

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

Question 9

B12 Deficiency

Answer 9

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

Question 10

Vitamin C deficiency

Answer 10

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

Question 11

Vitamin K deficiency

Answer 11

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

Question 12

Riboflavin B2 deficiency

Answer 12

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

Question 13

B3 Niacin deficiency

Answer 13

Indigestion fatigue canker sores vomit and depression with mild deficiency

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

Question 14

Pyridoxine B6 deficiency

Answer 14

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

Question 15

Vitamin D deficiency

Answer 15

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

Question 16

Vitamin E deficiency

Answer 16

Abetalipoproteinemia chrons disease CF and AVED

Symptoms are peripheral neuropathy ataxia skeletal myopathy immune impairment infertility