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129 Cards in this Set
- Front
- Back
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Vitamin A
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antioxidant constituent of visual pigments; needed for specialized tissue cell differentiation (pancreatic, mucus-secreting)
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Vitamin A def
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night blindness, dry skin
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Vitamin B1(thiamine)
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cofactor for pyruvate dehydrogenase (glycolysis), alpha-ketoglutarate dehydrogenase (TCA), transketolase (HMP), and branched chain AA dehydrogenase
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Vitamin B1 def
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impaired glucose breakdown leads to ATP depletion especially in highly aerobic tissues (brain, heart); causes Wernicke-Korsakoff syndrome (confusion, opthalmoplegia, focal hemorrhage in mamillary bodies), beri-beri (dry-polyneuritis, muscle wasting; wet-dilated cardiomyopathy, edema)
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Vitamin B2(riboflavin)
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cofactor in oxidation and reduction
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Vitamin B2 def
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cheilosis (inflammation of lips with scalin and fissures at corners of mouth), corneal vascularization, angluar stomatitis
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Vitamin B3 (niacin)
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constituent of NAD+, NADP+; derived from tryptophan; synthesis requires B6
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Vitamin B3 def
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glossitis, pellagra (diarrhea, dermatitis, dementia); can be caused by INH (decreased B6) or malignant carcinoid syndrome (increased tryptophan metabolism)
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Vitamine B5 (pantothenate)
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component of CoA and fatty acid synthesis
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Vitamin B5 def
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dermatitis, enteritis, alopecia, adrenal insufficiency
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Vitamin B6 (pyridoxine)
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converted to pyridoxal phosphate, cofactor in transamination, decarboxylation, glycogen phosphorylase, cystathionine and heme synthesis; required for niacin synthesis
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Vitamin B6 def
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convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia, required during admin of INH
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Vitamin B12 (cobalamin)
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cofactor for homocysteine methyltransferase
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Vitamin B12 def
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macrocytic megaloblastic anemia, hypersegmented PMNs, neurologic Sx (paresthesias, subacute combined degeneration, optic neuropathy), glossitis, increased levels of homocysteine and methylmalonic acid
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Vitamin C
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antioxidant; facilitates iron absorption; necessary for proline and lysine hydroxylation in collagen synthesis; necessary for dopamine beta-hydroxylase
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Vitamin C def
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scurvy: swollen gums, anemia, poor wound healing
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Vitamin D
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increases intestinal absorption of calcium and phosphate;Chediak-Higashi microtubule polymerization defect; decreases phagocytosis
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Chediak-Higashi symptoms
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recurrent pyogenic infections, partial albinism; peripheral neuropathy
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Kartagener's syndrome
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dynein defect causes immobile cilia
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Kartagener's syndrome symptoms
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male and female infertility; bronchiectasis; and recurrent sinusitis; situs inversus
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Scurvy
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Lack of vitamin C inhibits hydroxylation of procollagen in ER
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Osteogeneis imperfecta
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No glycosylation of procollagen in ER, abnormal type 1 collagen
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Ehlers-Danlos
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Problem forming collagen fibrils; abnormal ype III collagen most common
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Ehler's Danlos symptoms
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Hyperextensible skin, easy bruising, hypermobile joints and dislocations, berry aneurysms, organ ruptures
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Osteogenesis imperfecta symptoms
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autosomal dominant; multiple fractures, blue sclera; hearing loss; dental problems
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Alport's syndrome
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defective type IV collagen; inherited nephritis and sensory loss; X-linked recessive
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Marfan's syndrome
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defect in fibrillin
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Pancinar Emphysema
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alpha-1 anti-trypsin deficiency
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Southern blot
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DNA
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Northern blot
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RNA
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Western blot
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Protein
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Prader-Willi
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loss of paternal copy of 15q11-13
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Prader-Willi symptoms
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MR, hyperphagia, obesity, hypogonadism, hypotonia
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Angelman's syndrome
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loss of maternal copy of 15q11-13
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Angelman's syndrome
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MR, seizures, ataxia, inappropriate laughter
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Hypophosphatemic rickets
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X-linked dominant increased phosphate wasting at proximal tubule causing bone softening, bowed legs
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Achondroplasia
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AD defect of FGFR 3 associated with advanced paternal age
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Achondroplasia
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dwarfism, short limbs, but head and trunk are normal size
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AD polycystic kidney disease
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AD bilateral cystic kidneys due to mutation of APKD1 on 16
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AD polycystic kidney disease symptoms
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flank pain, hematuria, hypertension, progressive renal failure, berry aneurysms, mitral valve prolapse in adults
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Familial adenomatous polyposis
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AD mutation in APC on 5, 100s of colonic polyps after puberty, will get colon cancer unless resected
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Familial hypercholesterolemia
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AD elevated LDL due to defective or absent LDL receptor; severe athersclerotic disease early in life 20s, tendon xanthomas
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Osler-Weber-Rendu syndrome
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AD inherited disorder of blood vessels; tengiectasia recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMS)
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Heriditary spheocytosis
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AD defect in spectrin or anykyrin; hemolytic anemia with splenectomy being curative
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Huntington's disease
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AD and anticipation CAG repeat on 4; depression, progressive dementia, chorea, caudate atrophy, decreased GABA and ACh in brain
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Marfan's
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tall with long extremities, pectus excavatum, hyperextensive joints, and long fingers and toes, cystic medial necrosis of aorta-->dissecting aortic aneurysms
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Multiple Endocrine Neoplasias 1
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AD Parathyroid, pancreas, and pituitary
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MEN 2a
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AD Medullary thyroid , pheochromocytoma, and parathyroid; associated with RET gene
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MEN 2b
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AD Medullary thyroid , pheochromocytoma, and neuromas; associated with RET gene
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Neurofibromatosis 1 (von Recklinghausen's disease)
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cafe-au-lait spots, neural tumors, Lisch nodules, skeletal disorders, optic gliomas, pheochromocytomas, and increased tumor susceptibility
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Neurofibromatosis 1 (von Recklinghausen's disease)
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AD on 17
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Neurofibromatosis 2
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bilateral acoustic neuromas, juvenile cateracts
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Neurofibromatosis 2
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AD NF2 gene on 22
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Tuberous sclerosis
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facial lesions, ash leaf spots on skin, cortical and retinal hemartomas, seizures, MR, renal angiomyolipomas, cardiac rhabdomyomas, astrocytomas
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Tuberous sclerosis
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AD with incomplete penetrance and variable expressivity
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von Hippel Lindau syndrome symptoms
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hemangioblastomas of retina/cerebellum/medulla, renal clear cell carcinoma,
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von Hippel Lindau syndrome
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AD of VHL gene on 3p
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Cystic Fibrosis
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AR of Phe 508 of CFTR gene on 7
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Cystic Fibrosis symptoms
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recurrent pulmonary infections of Pseudomonas and S. aureus, chronic bronchitis, bronchietasis, pancreatic insufficiency, meconium ileus in newborns, absence of vas deferens
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Lesch Nyhan
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X-linked Autosomal recessive loss of HGPRT with build up of uric acid
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Lesch Nyhan symptoms
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retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
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SCID causes
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X-linked loss of common gamma chain (most common); loss of Adenosine Deaminase; AR loss of JAK3
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Duchenne's muscular dsytrophy
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X-linked frameshift mutation causes loss of dystrophin gene
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Duchenne's MD symptoms
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weakness starts in pelvic girdle and moves superiorly; pseudohypertrophy of calves, Gower's maneuver (use of hands to get up), cardiac myopathy
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Becker's MD
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X-linked mutation in dystrophin gene
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Fragile X
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X-linked CGG repeat of FMR1 gene
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Fragile X symptoms
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macro-orchidism, long face with large jaw, large ears, autism, mitral valve prolapse
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Myotonic dystrophy
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CTG repeat
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Friedreich's ataxia
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GAA repeat
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Arsenic
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inhibits lipoic acid used in the pyruvate dehydrogenase complex; sx's: vomiting, rice water stools, garlic breath
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Gycolytic enzyme deficiency
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Unable to maintain Na K ATPase, leads to hemolytic anemia; most commonly due to def. of pyruvate kinase
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pyruvate dehydrogenase deficiency
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Back up of pyruvate and alanine resulting in lactic acidosis. Causes neurologic deficits. Seen in alcoholics.
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G6PD Deficiency
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X linked recessive. Decreases NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents: fava beans, sulfonamides, primaquine, anti-TB drugs. Increasead malarial resistance.
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Fructose intolerance
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AR deficiency of aldolase B. F-1-P builds up, decreasing available phosphate, inhibiting glycogenolysis and gluconeogensis. Symptoms: hypoglycemia, jaundice, cirrhosis, vomiting.
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Essential fructosuria
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AR. Assymptomatic, increased fructose in blood and urine.
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Galactosemia
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AR loss of galactose-1-phosphate uridyltransferase. Toxic substances accumulate. Symptoms: failure to thrive, jaundice, hepatomegaly, infantile cataracts, MR.
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Glactokinase deficiency
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AR loss of galactokinase. Galactose appears in blood and urine, infantile cataracts.
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Electron transport inhibitors
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rotenone, CN, antimycin A, CO
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Uncoupling agents
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2,4-DNP, aspirin
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NADPH oxidase deficiency
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Chronic granulomatous disease: can't generate oxidative burst so increased infections from catalase positive species (S. aureus, Asperigillus)
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Lactase deficiency
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loss of brush-border enzyme causing: bloating, cramps, osmotic diarrhea
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OTC deficiency
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X-linked recessive. Find orotic acid in blood and urine, decrease BUN, symptoms of hyperammonemia
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Phenylketonuria (PKU)
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Decreased phenylalanine hydroxylase or tetrahydrobiopterin cofactor. Causes MR, growth retardation, seizures, fair skin, eczema, musty body odor.
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albinism
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due to lose of tyrosinase, defective tyrosine transporters, or lack of migration of NC cells.
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homocystinuria causes
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cystathionine synthase deficiency, decreased affinity of pyridoxal phosphate, and homocysteine methyltransferase deficiency
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homocystinuria symptoms
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homocysteine in urine, MR, osteoporosis, tall, kyphosis, lens displacement, and atherosclerosis
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cystinuria
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AR defect in proximal tubule. Cystine kidney stones.
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Maple syrup urine disease
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loss of a-ketoacid dehydrogenase build up of branched aas (Ile, Leu, Val) causing CNS defects, MR, and death
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Hartnup disease
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AR defect of aa transporters on renal and intestinal epithelial cells. Leads to loss of tryptophan and pellagra.
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Pellagra
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dementia, diarrha, dermatitis
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Von Gierke's disease
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Glycogen storage disease (GSD). loss of glucose-6-phosphatase. Fasting hypoglycemia, increased glycogen, increased blood lactate, and hepatomegaly.
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Pompe's disease
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GSD. Loss of lysosomal a-1,4-glucosidase. Cardiomegaly.
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Cori's disease
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GSD. Loss of debranching enzyme a-1,6-glucosidase. Milder form of von Gierke's.
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McArdle's
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GSD. Loss of skeletal muscle glycogen phosphorylase. Painful muscle cramps, myoglobinuria with exercise.
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Fabry's disease
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Lysosomal storage disease (LSD). XR Lack of a-galactosidase A leads to build up of ceramide trihexoside.
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Fabry's disease symptoms
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Peripheral neuropathy, angiokeratomas, cardiovascular/renal disease
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Gaucher's disease
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LSD. AR loss of B-glucocerebrosidase leads to build up of glucocerebroside.
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Gaucher's disease symptoms
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Hepatosplenomegaly, aspetic necrosis of femur, bone crises
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Niemann-Pick disease
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LSD. AR loss of sphingomyelinase leads to build up of sphingomyelin.
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Niemann-Pick disease symptoms
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Progressive neurodegeneration, HEPATOSPLENOMEGALY, cherry red spot on macula, foam cells
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Tay-Sach's disease symptoms
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Progressive neurodegeneration, cherry red spot on macula, developmental delay, lysosomes with onion skin, NO hepatosplenomegaly
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Tay Sach's disease
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LSD. AR Loss of hexosaminidase A leads to build up of GM2 ganglioside
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Krabbe's disases
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LSD. AR loss of galactocerbrosidase leads to build up of galactocerbroside.
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Krabbe's disease symptoms
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Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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Metachromatic leukodystrophy
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LSD. AR loss of arylsulfatase A leads to cerebroside sulfate.
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Metachromatic leukodystrophy symptoms
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central and peripheral demyelination with ataxia, dementia
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Hurler's syndrome
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Mucopolysaccharidoses LSD. AR loss of a-L-iduronidase leads to build up of heparan sulfate, dermatan sulfate.
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Hurler's syndrome symptoms
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developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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Hunter's syndrome
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Mucopolysaccharidoses LSD. XR loss of iduronate sulfatase leads to build up heparan sulfate, dermatan sulfate.
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Hunter's syndrome
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Hurler's mild symptoms + aggressive behavior, no corneal clouding
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Type I familial dyslipidemia: hyperchylomicronemia
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Increased chylomicrons (serum TG, cholesterol). LIpoprotein lipase deficiency or apolipoprotein C-II. Causes pancreatitis, hepatosplenomegaly, and xanthomas.
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Type II familial dyslipidemia: familial hypercholesterolemia
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Increased LDL. AD loss of LDL receptors. Accelerated atherosclerosis, tendon xanthomas, and corneal arcus.
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Type IV familial dyslipidemia: hypertriglyceridemia
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Hepatic overproduction of VLDL (serum TG) causes pancreatitis.
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abetalipoproteinemia
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AR deficiency of apoB-100 and apoB-48. Early onset failure to thrive, steatorrhea, acanthocytosis, ataxia, and night blindness increases bone resorption
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Vitamin D def
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rickets in children(bending bone); osteomalacia(soft bone) and hypocalcemic tetany in adults
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Vitamin E
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antioxidant protects erythrocytes and membranes from free-radical damage
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Vitamin E def
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increased erythrocyte fragility leads to hemolytic anemia, muscle weakness, neurodysfunction
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Vitamin K
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catalyzes gamma-carboxylation of glutamic acid residues on blood clotting proteins
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Vitamin K def
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neonatal hemorrhage with normal bleeding time, increased PT and PTT
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Biotin
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cofactor for carboxylation enzymes
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Biotin def
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dermatitis, alopecia, enteritis; caused by antibiotic use or excessive raw egg ingestion
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Folic acid
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converted to THF, coenzyme for 1-carbon transfer (methylation) reactions
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Folic acid def
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Sprue, macrocytic megaloblastic anemia, no neurologic symptoms; increased homocysteine, normal methylmalonic acid
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Magnesium def
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Weakness, muscle cramps, exacerbation of hypocalcemic tetany, CNS hyperirritability leading to tremors, choreathetoid movement
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Selenum def
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Keshan disease(CMP)
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Zinc
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essential for activity of 100+ enzymes; needed for zinc finger transcription factor motif
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Zinc def
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delayed wound healing, hypogonadism, decreased adult hair, dysgeusia, anosmia
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Acute intermittent porphyria
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Variable/AD inheritance; def. in Porphobilinogen deaminase (aka uroporphyrinogen-I-synthase), leading to accumulation of porphobilinogen, delta-aminolevulinic acid; Sx's: 5 P's = Painful abdomen, Pink urine, Polyneuropathy, Psychological disturbances, Precipitated by drugs
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Porphyria cutanea tarda
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Variable/AD inheritance; def. in uroporphyrinogen decarboxylase leading to accumulation of uropophyrin; Sx's: blistering cutaneous photosensitivity, most common porphyria
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