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Biochemistry 2
First Aid Biochemistry 2
| Question | Answer |
|---|---|
| Severe fasting hypoglycemia, elevated liver glycogen, hepatomegaly. | Von Gierke's disease; Glucose-6-phosphatase deficiency |
| Glycogen storage disease resulting in cardiomegaly and systemic findings leading to early death. | Pompe's disease; lysosomal alpha 1,4 glucosidase deficiency |
| Increased muscle glycogen which can't be broken down leading to painful muscle cramps | McArdle's disease; skeletal muscle glycogen phosphorylase |
| Hepatosplenomegaly, aseptic necrosis of femur, bone crises, glucocerebrosidase accumulations | Gaucher's disease; Beta-glucocerbrosidase deficiency |
| Progressive neurodegeneration, hepatosplenomegaly, cherry red spot. | Niemann-Pick disease; Sphingomyelinase deficiency |
| Progressive neurodegeneration, developmental delay, cherry red spot. | Tay-Sachs disease; Hexosaminidase A deficiency |
| Cellular accumulations of GM2 ganglioside | Tay-Sachs disease; Hexosaminidase A deficiency |
| Cellular accumulations of Sphingomyelin | Niemann-Pick disease: Sphingomyelinase deficiency |
| Developmental delay, gargoylism, corneal clouding, hepatosplenomegaly | Hurler's syndrome; alpha-L-iduronidase deficiency |
| Heparan sulfate and dermatan sulfate accumulations | Hurler's syndrome (alpha-L-iduronidase), or Hunter's syndrome (Iduronate sulfatase) |
| Delivers dietary TG's to peripheral tissues and liver. | Chylomicrons |
| Delivers TG's to peripheral tissues. Secreted by the liver. | VLDL |
| Formed from VLDL, delivers TG's and cholesterol to the liver. | IDL |
| Delivers hepatic cholesterol to peripheral tissues. | LDL |
| Transports cholesterol from peripheral tissues to liver, also a repository for apoC and apoE necessary fro chylomicron and VLDL metabolism. | HDL |
| Apo B-48, A, C, and E | Chylomicron |
| Apo B100, C-II, and E | VLDL |
| What is the cause of increased cholesterol in familial hypercholesterolemia? | Increased LDL due to decreased LDL receptors |
| What are the enzymes effected and accumulated urine substrates in lead poisening? | Ferrochetalase and ALA dehydrase; Coproporphyrin and ALA |
| What is the deficient enzyme and accumulated urine substrates in acute intermittent porphyria? | Uroporphyrinogen I synthase; porphobilinogen and delta-ALA |
| What are is the deficient enzyme and accumulated urine substrates in Porphyria cutanea tarda? | Uroporphyrinogen decarboxylase; uroporphyrin (tea-colored) |
| What are the symptoms of porphyria? | 4 P's; painful abdomen, pink urine, polyneuropathy, psychological disturbances |
| What form of hemoglobin has the highest affinity for O2? | The relaxed (O2 loaded) form has a higher affinity than the taut form (O2 unloaded) |
| What is the definition of genetic imprinting? | Differences in phenotype depending on whether the mutation is of maternal or paternal origin; AngleMan (Maternal) or Prader-Willi (Paternal) syndrome |
| What is the Hardy-Weinberg equation, and what are the 4 assumptions it requires? | Disease prev is pp+2pq+qq=1; Allele prev is p+q=1; Heterozygote prevalence is 2pq; p=freq(A) and q=freq(a);No mutation, no selection, no migration, and random mating |
| Deletion of paternal allele resulting in mental retardation, obesity, hypogonadism, and hypotonia. | Prader-Willi |
| Deletion of maternal allele resulting in mental retardation, seizures, ataxia, and inappropriate laughter? | Angleman's syndrome |
| Many generations, both male and female, affected, often due to defects in structural genes. Mode of inheritance? | Autosomal Dominant |
| 25% of offspring from 2 carrier parents affected. Usually seen in only 1 generation. Mode of inheritance? | Autosomal recessive |
| Sons of heterozygous mothers have a 50% chance of being affected. No male to male transmission. Mode of inheritance? | X-linked recessive |
| Either male or female offspring affected when mother affected, all female offspring of affected father affected. Mode of inheritance? | X-linked dominant |
| All offspring of affected mother may show signs of disease. | Mitochondrial inheritance |
| Patient presents with pain, hematuria, hypertension, and progressive renal failure. Massive bilateral enlargement of the kidneys. Diagnosis? | polycystic kidney disease |
| 20 yro with severe atherosclerotic disease and tendon xanthomas. Diagnosis? | Familial hypercholsterolemia |
| Tall with long extremities, hyperextensive joints, and long, tapering fingers and toes. | Marfan syndrome |
| Cafe-au-lait spots and neural tumors. Lisch nodules (pigmented iris hamartomas). Diagnosis? | Neurofibromatosis type 1 (von Recklinghausen's disease) |
| Bilateral acoustic neuroma and juvenile cataracts. Diagnosis? | Neurofibromatosis type 2 |
| Facial lesions, hypopigmented skin, seizures, mental retardation, renal cysts, and cardiac rhabdomyomas. Diagnosis? | Tuberous sclerosis |
| Hemangioblastomas of retina/cerebellum/medulla; about half developing renal cell carcinoma and other tumors. Deletion on chromosome 3. Diagnosis? | Von Hippel-Lindau disease |
| Depression, progressive dementia, choreiform movements, caudate atrophy manifesting between 20 and 50 yro. Diagnosis? | Huntington's disease |
| Colon covered with adenomatous polyps after puberty. What chromosome is affected? | Familial adenomatous polyposis; chromosome 5 |
| Autosomal dominant cell-signaling defect of fibroblast growth factor. Diagnosis? | Achondroplasia; dwarfism |
| X-linked recessive frame shift mutation resulting in accelerated muscle breakdown with onset before 5 years of age. Diagnosis? | Duchenne's muscular dystrophy |
| X-linked defect affecting methylation and expression of FMR1 gene resulting in mental retardation. | Fragile X syndrome; CGG triplet repeat disorder |
| Syndrome associated with macro-orchidism, long face with a large jaw, large everted ears, and autism. | Fragile X syndrome; CGG triplet repeat disorder |
| Mental retardation, flat facial profile, simian crease and ASD. Diagnosis? | Down syndrome; trisomy 21 |
| Severe mental retardation, rocker bottom feet, low set ears, micrognathia (small jaw), clenched hands, and congenital heart disease. Diagnosis? | Edwards syndrome; trisomy 18 |
| Severe mental retardation, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, and congenital heart disease. Diagnosis? | Patau's syndrome; trisomy 13 |
| Severe mental retardation, microcephaly, high-pitched crying, cardiac abnormalities. Diagnosis? | Cri-du-chat syndrome; deletion of short arm of chromosome 5 |
| Cleft palate, abnormal facies, thymic aplasia leading to T cell deficiency, cardiac defects, parathyroid aplasia. Diagnosis? | 22q11 syndormes; variable presentation as DiGeorge syndrome (thymic, parathyroid, and cardiac defects) or velocardiofacial syndrome (palate, facial, and cardiac defects) |
| The number one cause of congenital malformations in the U.S.? | Fetal alcohol syndrome |
Created by:
rahjohnson
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