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48 Cards in this Set
- Front
- Back
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Kwashiorkor
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protein malnutrition
Sx: skin lesions, emaciated, edema (swollen belly), fatty liver |
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marasmus
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calorie malnutrition
Sx: emaciated, less edema than Kwashiorkor; can recover |
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I-cell disease
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Sx: coarse facial features, clouded cornea, dec. joint movement, often fatal
Path: failure to add mannose-6-P to lysosomal proteins, causing them to be secreted outside cell |
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Kartagener's
syndrome |
Sx: infertility, bronchiectasis
assoc. w/ situs inversus Path: dynein arm defect |
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Ehlers-Danlos
syndrome |
Sx: hyperextensible skin, hypermobile joints, easy bruising
Path: improper peptide cleavage outside cell, usually Type III collagen (blood vessels), but also affects skin |
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osteogenesis imperfecta
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Type I: multiple fractures, blue sclerae, hearing loss, poor dentition
Type II: fatal |
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Marfan's
syndrome |
Sx: aortic dissection
Path: defect in fibrillin and thus elastin |
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α₁ antitrypsin
deficiency |
Sx: emphysema
antitrypsin typically inhibits neutrophil elastase, which is constantly secreted in lung |
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glucose 6-P dehydrogenase deficiency
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Sx: hemolytic anemia, Heinz bodies
Path: unable to produce NADPH, cannot elim. antioxidants triggered by Rx, fava, infection Epi: X-linked; Middle East, Mediterranean, tropics carriers resistant to malaria |
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α thalassemias
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1. silent
2. trait (mild) 3. HbH: β₄ (mod.) 4. Barts: γ₄ (hydrops fetalis) |
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β thalassemias
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1. minor, no tx
2. α chains preciptate, need transfusions |
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cystinuria
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Sx: kidney stones
Path: defect in cell AA uptake transporter causes inc. serum Cys, Orn, Arg, Lys Epi: common; 1 in 7,000 |
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paroxysmal nocturnal hemoglobinuria
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Sx: hemoglobinuria at night
Path: deficiency in glycosyl phosphatidylinositol (GPI), which is where cell surface proteins bind |
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Tay-Sachs
disease |
Sx: rapid neurodegeneration, cherry red macula, blindness
Path: lysosomal sphingolipid breakdown disorder |
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Sandhoff's
disease |
same as Tay-Sachs,
plus visceral involvement |
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Fabry's disease
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Sx: red-purple rash, kidney failure, heart failure, burning leg pain
Path: lysosomal sphingolipid breakdown disorder Gen: X-linked recessive (other lysosomal dz aut. recessive) |
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Niemann-Pick
disease |
Type A: rapid neurodegeneration, death in years
Type B: chronic, death early adult Path: lysosomal sphingolipid breakdown disorder |
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Gaucher
disease |
Sx: hepatosplenomegaly, long bone osteoporosis, variable CNS
Path: lysosomal sphingolipid breakdown disorder Epi: most common liposomal storage dz |
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Farber disease
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Sx: painful, progressive joint deformity; subQ nodules of lipid, granulomas, hoarse cry
Path: lysosomal sphingolipid breakdown disorder |
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fructose intolerance
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Sx: hypoglycemia, jaundice, cirrhosis, vomiting
Path: aldolase B defect blocks Fru -> G3P, uses up ATP |
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essential fructosuria
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Sx: fructose in blood & urine; benign
Path: defect in fructokinase so no fructose absorbed |
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phenylketonuria
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Sx: retardation, eczema, musty body odor
Path: phenylalanine hydroxylase deficiency causes phelalanine/phenalketone buildup in blood; tyrosine becomes essential AA Tx: tyrosine; avoid phenylalanine (aspartame) |
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alkaptonuria
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Sx: urine darkens on standing, dark CT, arthralgia
Path: defect in homogentisic acid oxidase for tyrosine breakdown |
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albinism
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Sx: pale skin, red eyes, skin cancer
Path: defect in tyrosinase (-> melanin), tyrosine transporter, or neural crest cell migration Gen: locus heterogeneity |
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homocystinuria
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Sx: mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, ahterosclerosis
Path: unable to convert methionine -> homocysteine -> cysteine, buildup of homocysteine |
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maple syrup urine disease
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Sx: CNS defects, mental retardation, dark urine
Path: blocked degradation of branched AAs (Ile, Val, Leu) Mn: I Love Vermont maple syrup. |
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adenosine deaminase deficiency
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Sx: SCID (bubble boy)
Path: causes excess ATP, dATP preventing DNA synthesis -> dec. lymphocyte count |
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adenosine deaminase deficiency
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Sx: SCID (bubble boy)
Path: causes excess ATP, dATP preventing DNA synthesis -> dec. lymphocyte count |
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Lesch-Nyhan syndrome
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Sx: retardation, self-mutilation, hyperuricemia, choreoathetosis
Path: excess uric acid due to defect in purine salvage |
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Von Gierke's disease
(Type I Glycogen) |
Sx: growth retardation, fatty liver, progressive renal failure, lactinemia
Path: Glucose 6-P deficiency prevents liver from releasing Glu during fast |
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Pompe's disease
(Type II Glycogen) |
Sx: massive cardiomegaly, early death
Path: lysosomal enzyme defect prevents glycogen to Glu |
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Cori's disease
(Type III Glycogen) |
Sx: similar to Von Gierke's dz but milder; no lactinemia
Path: defect in glycogen debranching enzyme |
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McArdle disease
(Type V Glycogen) |
Sx: weakness & cramps after exercise, no lactate buildup, nl. development
Path: defect in glycogen phophorylase; unable to convert glycogen to Glu in muscle |
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glycogen storage diseases
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I. Von Gierke
II. Pompe III. Cori V. McArdle Mn: Very Poor Carbohydrate Metabolism (note there is no IV) |
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Hurler's syndrome
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Sx: retardation, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Path: lysosomal storage defect in mucopolysaccharide breakdown |
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Hunter's syndrome
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Sx: aggression, retardation, airway obstruction, hepatosplenomegaly (like Hurler's but milder, with aggression but no corneal clouding)
Path: lysosomal storage defect in mucopolysaccharide breakdown Gen: X-linked recessive (other lysosomal dz aut. recessive) |
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hyperchylomicronemia
(Type I dyslipidemia) |
(+) plasma TG, cholesterol
Path: (+) chylomicrons due to lipoprotein lipase or apo C-II defect |
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hypercholesterolemia
(Type IIa dyslipidemia) |
(+) cholesterol
Path: (+) LDL due to (-) LDL receptors |
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combined hyperlipidemia
(Type IIb dyslipidemia) |
(+) TG, cholesterol
Path: (+) LDL, VLDL due to hepatic overproduction of VLDL |
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dysbetalipoproteinemia
(Type III dyslipidemia) |
(+) TG, cholesterol
Path: (+) IDL, VLDL due to altered apo E |
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hypertriglyceridemia
(Type IV dyslipidemia) |
(+) TG
Path: (+) VLDL due to hepatic overproduction of VLDL |
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mixed hypertriglyceridemia
(Type V dyslipidemia) |
(+) TG, cholesterol
Path: (+) VLDL, chylomicrons due to (+) production or (-) clearance |
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Prader-Willi
disease |
Sx: mental retardation, obesity, hypogonadism, hypotonia
Gen: example of imprinting - only 1 allele active at locus; active paternal allele deleted |
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Angelman's
syndrome |
Sx: mental retardation, seizures, ataxia, inappropriate laughter
Gen: example of imprinting - only 1 allele active at locus; active maternal allele deleted |
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fragile X
syndrome |
Sx: mental retardation (2nd to Down's), macro-orchidism, long face, autism
Gen: X-linked, triplet repeat disorder, affects FMR1 gene anticipation in preceding generations |
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cystic fibrosis
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Sx: fat (plus A, D, E, K) malabsorption, pulmonary infections
Path: recessive defective in CFTR affects Cl channel, thick secretions cause plugs; (+) Cl in sweat test |
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cri-du-chat
syndrome |
Sx: microcephaly, severe mental retardation, mewing, cardiac
Gen: deletion of short arm of chromosome 5 |
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Chédiak-Higashi syndrome
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defect in microtubule polymerization,
(-) phagocytosis |
