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Biochemistry 2

First Aid Biochemistry 2

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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