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39 Cards in this Set
- Front
- Back
PKU
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M: Decrease in phenylalanine hydroxylase or tetrahydrobiopterin cofactor (BH4). Phenylalanine/phenylketone build up.
F: Mental retardation, growth retardation, fair skin, eczema, musty body odor. T: No phenylalanine, give tyrosine. |
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Alkaptonuria
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M: Deficiency in homogentisic acid oxidase in tryosine breakdown.
F: Dark urine on standing. Dark sclera, conx tissue. Arthralgia. |
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Homocystinuria
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M:Cystathinoine synthase deficiency, or homocysteine methyltransferase def.
F: Mental retardatoin, osteoporosis, tall stature, kyphosis, lens subluxation, athersclerosis. (Vessel damage) T: Cysteine becomes essential. |
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Cystinuria
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M: Cysteine, ornithine, lysine, arginine PCT transporter defect.
F: Excess cysteine in urine lead to staghorn calculi T: Acetazolamide to alkalinize urine. |
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Maple Syrup Disease
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M: Can't degrade branched amino acids (Ile, Leu, Val) - no a-ketoacid dehydrogenase.
F: Severe CNS defects, retardation, death, maple syrup urine. |
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Von Gierke's Disease
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M: Glucose-6-P def.
F: Severe fasting hypoglycemia, tons of glycogen in liver, increase in blood lactate, hepatomegaly. GLYCOGEN STORAGE DISEASE |
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Pompe's Disease
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M: Lysosomal a-1,4 glucosidase (acid maltase) def.
F: Cardiomegaly, atonia and systemic findings lead to early death. GLYCOGEN STORAGE DISEASE |
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Cori's Disease
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M: Debranching enzyme a-1,6-glucosidase def.
F: Fasting hypoglycemia, increased glycogen in liver, hepatomegaly, gluconeogenesis intact. GLYCOGEN STORAGE DISEASE |
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McArdle's Disease
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M: Skeletal muscle glycogen phosphorylase def
F: Incr. glycogen in muscle, can't break it down. Cramps, myoglobinuria with exercise. GLYCOGEN STORAGE DISEASE |
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Fabry's Disease
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M: a-galactosidase A def, ceramide trihexoside accum.
F: Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. I: XR |
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Gaucher's Disease
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Most common of sphingolipidoses
M: b-glucocerebrosidase def, glucocerebroside accum F: Hepatosplenomegaly, aseptic femoral necrosis, bone crises, Gaucher Cells (crumbled-tissue-macrophaghes.) I: AR |
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Niemann-Pick Disease
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M: Sphingomyelinase def, sphingomyelein accum
F: Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells I: AR |
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Tay-Sachs Disease
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M: Hexosaminidase A def, GM2 ganglioside accum
F: Progressive neurodegeneration, development delay, cherry-red spot, lysosomes with onions skin I: AR |
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Krabbe's Disease
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M: Galactocerebrosidase def, galatocerbroside accm
F: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells I: AR |
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Metachromatic Leukodystrophy
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M: Arylsulfatase A dec, cerebroside sulfate accum
F: Central and peripheral demyelination with ataxia/dementia I: AR |
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Hurler's Syndrome
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M: a-L-iduronidase def, heparan sulfate, dermatan sulfate accum
F: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly I: AR |
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Hunter's syndrome
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M: iduronate sulfatase def, heparan sulate and dermatan sulfate accum
F: Mild Hurler's, aggressive behavior, no corneal clouding I: XR |
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Lead poisoning
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Porphyria
Affects ferrochelatase and ALA dehydratase Coprophorphyrin and d-ALA accumulates Abdominal pain, microcytic anemia, neurological problems. |
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Acute Intermittent Porphyria
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Porphobilinogen deaminase is deficient.
Prophobilinogen/d-ALA accumulates. Painful abdomen, pink urine, polyneuropathy, psych disturbances. |
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Porphyria Cutanea Tarda
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Uroporphyinogen decarboxylase deficiency
Uroporphyrin accumulates. Tea colored urine, photosensitive lesions. |
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Familial Dylipidemia
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Type 1 (hyperchylomicronemia): Lipoprotein lipase or apolipo C-II deficiency. Incr TG, cholesterol in blood
Type IIa (hypercholesterolemia): Decr LDL receptors, causes incr cholesterol in blood Type IV (hyperTGemia): Hepatic overproduction of VLDL, increased TG in blood |
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Major apolipoproteins
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A-1: Activates LCAT
B-100: Binds LDL receptor C-II: Cofactor for lipoprotein lipase B-48: Mediates chylomicron secretion E: Mediates remnant uptake |
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Andersen's Disease
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M: Branching enzyme def in liver spleen (glucosyl-4,6-transferase)
F: Hepatomegaly, cirrhosis, death 1-2 years GLYCOGEN STORAGE DISEASE |
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Hers' Disease
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M: Glycogen phosphorylase def in liver
F: Similar, less severe, than Von Gierke's GLYCOGEN STORAGE DISEASE |
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Adult Polycystic Kidney Disease
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Autosomal Dominant. Always bilateral, massive enlargment of kidneys with cysts. Pts present with pain, hematuria, hematemesis, prog renal failure. 90% due to APKD1 mutation (16). Liver dz, berry aneurysms, mitral valve prolapse.
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Marfan's syndrome
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AD. Fibrillin gene mutation - conx tissue dissorder.
Skeletal problems:tall, with long extremities, pectus excavatum, hyperextensive joints, arachnodactyly CV: aortic incompetence, dissections, floppy mitral valve. |
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Neurofibromatosis
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Type 1 (von Recklinghausen's): Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Skeletal disorders, optic pathway gliomas, pheos, and tumor susceptiblity. Long arm of chromosome 17.
Type 2: Bilateral acoustic neruoma, juvenile cataracts, NF2 gene on chromosome 22. |
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Tuberous sclerosis
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AD. Facial lesions, hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, incr incidence of astrocytomas. Incomplete penetrance, variable.
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von-Hippel-Lindau
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Hemangioblastomas or retina/cerebellum/medulla; about half get bilateral renal cell carcinoma and other tumors.
Assoc with deletion of VHL gene on chromosome 3p. |
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Achondroplasia
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AD cell-signaling defect of fibroblast growth factor receptor 3. Dwarfism. Assoc with advanced paternal age.
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Autosomal recessive DZ
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cystic fibrosis, albinism, a1-antitrypsin, PKU, thalessmia, sickle cell, glycogen storage disease, infant polycystic kidney dz, hemochromatosis, sphingos (not Fabrys) mucos (Not Hunters)
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X-Linked Dz
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Bruton's, Wiskott-Aldrich, Fragile X, G6PD, Ocular albinism, Lesch-Nyann, Duchenne's, Hemophilia A/B, Fabry's, Hunter's
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Fragile X
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X-linked defect affects methylation and expression of FMR1 gene. Associated with chromosomal breakage. 2nd most common cause of genetic retardation after Downs. Macro-orchidism, long face/jaw, everted ears, autism. Triplet Disorder
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Trinucleotide Repeat Dz
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Huntington's, myotonic dystrophy, Friedrich's ataxia, fragile X
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Down Syndrome
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Trisomy 21
Increase with maternal age, 95% a nondisjunction. Decr a-fetoprotein in amniocentesis. ALL, Alzheimers risk, Die at 45-50, retardation; flat facial profile, epicanthal folds; septum primum ASD defects; Simian Crease; Gap between first two toes |
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Edwards' Syndrome
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Trisomy 18
Less than one year, severe retardation; prominent occiput, micrognathia, low-set ears, heart defects; clenched hands; rocker bottom feet |
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Patau's Syndrome
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Trisomy 13
Less than one year, severe retardation, Microphthalmia, microcephaly, cleft lip/palate; heart defects; polydactyly; rocker-bottom feet |
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Galactosemia
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Absence of galactose-1-p uridyltransferase. Glactitol, tox substance, accum. Cataracts, hepatosplenomegaly, mental retardation. Galactokinase def causes similar problems. Remove lactose/galactose from diet.
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Fructose intolerance
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Aldolase B def, F-1-P accum which eats up free phosphate. Hypoglycemia, jaundice, cirrhosis, vomiting.
Essential fructosuria - fructikinase def, benign, fructose in pee. |