CIS Nutrition Test 2 Flashcards
Galactokinase Deficiency
Juvenile cataracts present due to decrease conversation of galactose to galactose-1-phosphate
Dihydopteridine Reductase deficiency
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
Galactosycleramidase
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
GALT
Failure to metabolize lactose and galactose into glucose. Accumulation of galactose causes symptoms:
Feeding diffficulties lethargy liver damage jaundice cataracts sepsis
Kwashiorkor
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
Marasmus
Protein calorie deficiency results in emancipation, respiratory infections, diarrhea, apathy and stunted growth
Vitamin A deficiency
Results in Nyctalopia (bight blindness) Xerophthalmia (inability for tears) Changes light into electrical signals with Rhodopsin
B1 (Thiamine ) Deficiency
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
B12 Deficiency
Results in fatigue inflammation of tongue decreased taste- tongue looks smooth,
Numbness/ tingling and megaloblastic anemia
Vitamin C deficiency
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
Vitamin K deficiency
Easy bruising oozing from nose or gums heavy periods bleeding from GI blood in urine or stool increased Prothrombin time
Riboflavin B2 deficiency
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
B3 Niacin deficiency
Indigestion fatigue canker sores vomit and depression with mild deficiency
Severe deficiency is called pellagra. Thick scaly pigmented rash with sunlight
Pyridoxine B6 deficiency
Microcytic anemia, electroencephalographic abnormalities, Dermatitis with chills, glossitis, depression confusion and weakened immune Fxn
Vitamin D deficiency
Subtle to no symptoms although the risk of heart disease death cognitive impairment increase, Severe asthma in children, cancer risk increases