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23 Cards in this Set

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GALACTOSEMIA
Autosomal recessive absence of "galactose-1-phosphate uridlytransferase" causes accumulation of toxins. Patients have MR, cataracts, HSMegaly. Treat by excluding galactose and lactose from the diet.
VITAMIN B2
Riboflavin is a cofactor (FAD & FMN). Deficiency leads to Chelosis, Angular Stomatits, Corneal Vascularization.
FOLIC ACID
Coenzyme for one carbon transfers. Folic Acid deficiency is the most common vitamin deficiency in the US. People get folic acid from leafy greens but it is only stored ~2months. Deficiency causes a macrocytic megaloblastic anemia. PABA is the folic acid precursor in bacteria - sulfa drugs and dapsone are PABA analogs.
VITAMIN D
Increases intestinal absorption of calcium and phosphate; deficiency in children is rickets, in adults is osteomalacia & hypocalcemic tetany. Excess, as seen in sarcoid, causes hypercalcemia, loss of appetite and stupor.
VITAMIN B1
Thiamine is a cofactor for various things. Deficiency, usually via malnutrition, leads to Wernicke- Korsakoff syndrome and Beriberi (polyneuritis, cardiac issues and edema; "wet" Ber1Ber1 exhibits high output cardiac failure).
VITAMIN E
Vit E is an antioxidant which protects RBC's from hemolysis.
KLINEFELTER'S SYNDROME
XXY boys, 1:850 testicular atrophy, tall, long extremities, gynecomastia, female hair distribution. Barr body +.
VITAMIN E
Vit E is an antioxidant which protects RBC's from hemolysis.
DOWN'S SYNDROME
Trisomy 21, 1:700
VITAMIN B12
Cobalamin is required for homocysteine methylation and CoA handling. It is synthesized by microorganisms, taken in by animal consumption and stored in the liver. Deficiency is usually caused by malabsorption, intrinsic factor deficiency or lack of functional terminal ileum; symptoms include Macrocytic, Megaloblastic anemia, Neurologic changes, and glossitis.
VITAMIN E
Vit E is an antioxidant which protects RBC's from hemolysis.
VITAMIN K
Needed for clotting, synthsized by intestinal flora. Deficiency may follow antibiotic use, and is typifies by an increase in PT and PTT but a normal bleeding time. K dependant factors are II, VII, IX, X, protien C and S.
VITAMIN B6
Pyroxidine is another cofactor; deficiency is induceable by INH and causes convulsions and hyperirritability.
VITAMIN A
"Retinol" is a constituent of visual pigments. Deficieny causes night blindness and dry skin; excess causes arthralgias, fatigue, headaches, skin changes, sore throat and alopecia.
PHENYLKETONURIA
Caused by a decrease in enzyme or cofactor responsible for creating tyrosine. Now patients have to avoid phenylalanine and must have tyrosine in their diet! Patients exhibit MR (preventable), fair skin, eczema and a musty odor.
HYPERBILIRUBINEMIA
Unconjugated - is indirect, and insoluable.
Conjugated or direct bilirubin is excreted in the urine.
VITAMIN B3
Niacin is a constituent of NAD & NADP derived from tryptophan. Deficiency (pellagra) can be caused by Hartnup disease, malignant carcinoid syndrome and INH therapy. Sx of pellagra are the 4 D's: Diarrhea, Dementia, Dermatitis, Death (also beefy glossitis).
BIOTIN
Biotin is a cofactor for carboxylations. Deficiency is caused by raw egg ingestion or antibiotic use; symptoms include dermatitis & enteritis
VITAMIN B5
Pantothenate is part of CoA; deficiency causes dermatitis, alopecia, enteritis & adrenal insufficiency.
DOUBLE Y MALES "SUPER-MALES"
1:1000, Phenotypically normal, very tall, severe acne - may be associated with antisocial behavior.
VITAMIN E
Vit E is an antioxidant which protects RBC's from hemolysis.
TURNER'S SYNDROME
XO girls, 1:3000, Short Stature, ovarian dysgenesis, webbed neck, coarctation of the aorta, Barr body -.
VITAMIN C
Necessary for the Crosslinking of proline and lysine in Collagen Synthesis. Deficiency = scurvy = swollen gums, anemia, poor wound healing, bruising.