Biochem - Final - Diseases and Conditions - Part 2

davidwurbel7's version from 2015-04-20 03:12


Question Answer
Lobstein Syndrome is a genetic bone disorder a.k.aOsteogenesis Imperfecta
Single base substitutions mutations in type 1 collagen genesOsteogenesis Imperfecta
Skeletal deformities, fractures and tainted scleraOsteogenesis Imperfecta
Dental abnormalities (dentinogenesis imperfecta), the teeth may have a characteristic amber, yellowish brown, or translucent bluish gray color because of a deficiency of dentin that is rich in type I collagen.Osteogenesis Imperfecta
Mutations in either the proα1 chain gene or the proα2 chain gene of type I procollagen (the COL1A1 and COL1A2 genes). GLY-X-Y (Can be defect in Gly to any other amino acid)Osteogenesis Imperfecta
A severe decrease in bone mass (osteopenia) that makes bones brittle. The appearance of "popcorn-like" deposits of mineral in x-rays of the ends of long bones is an ominous sign. The disorder is frequently associated with blue sclera.Osteogenesis Imperfecta
Petechia, echymoses, poor wound healing, poor bone developmentScurvy
Perifollicular hemorrhages in the skinScurvy
In advanced cases, swollen, bleeding gums are a classic finding. Alveolar bone resorption results in loss of teeth.Scurvy
Deficient hydroxylation secondary to ascorbate acid deficiencyScurvy
Vitamin C deficiency is associated withScurvy
Swollen, bleeding gums, joints, loose teeth, pinpoint hemorrhages around hair folicles (petechiae), gums, nails, soreness and stiffness of joints & lower extremities, slow wound healing, anemia, fatigueScurvy
Skin changes vary from thin and velvety to skin that is either dramatically hyperextensible ("rubber person" syndrome) or easily torn or scarred. Patients develop characteristic "cigarette-paper" scars. Ehlers-Danlos syndrome (EDS)
Collagen disorder, mitral valve prolapse and hernias, mild to moderate scoliosis, and degenerative arthritis. Commonly associated with loose or hypermobile joints and hyperelasticEhlers-Danlos Syndromes
Mutations in collagen genes and lysine hydroxylase geneEhlers-Danlos Syndromes
Hypermobile joints, dislocations, varicose veins, ecchymoses, arterial, intestinal rupturesEhlers-Danlos Syndromes
Panacinar emphysema or COPD can be a result asα1-Antitrypsin deficiency
Cigarette smoke directly inactivates ______ by oxidizing essential methionine residues to sulfoxide formsα1-Antitrypsin
What inhibits number of proteolytic enzymes including elastasesα1-Antitrypsin
Skeletal, Heart, Eye and possible Lung issuesMarfan Syndrome
A disease caused by mutations in the Fibrillin-1 (FBN1) gene, a key component of connective tissue on chromosome 15Marfan Syndrome
Ocular abnormalities (myopia and dislocation of lenses(superotemporal))Marfan Syndrome
Cardiovascular diseases. Dilation of ascending aorta (90%) frequently leads to aortic rupture or congestive heart failureMarfan Syndrome
Characterized by skeletal abnormalities (thin, elongated limbs, pectus excavatum, pectus carinatum), hypermobile jointsMarfan Syndrome
Arachnodactyly (spider fingers), Positive Walker-Murdoch & Steinberg signsMarfan Syndrome
Triad of long limbs, dislocated lenses (superotemporal subluxation) and aortic root dilatation Marfan Syndrome
This condition is characterized by an increase in 2,3-BPG, mild to moderate chronic hemolytic anemia, and the absence of Heinz bodiesPyruvate Kinase Deficiency
Prevents net ATP and NADH production by glycolysis, without inhibiting the glycolysis pathway itself. Competes with inorganic phosphate (Pi) as a substrate for glyceraldehyde phosphate dehydrogenase forming a complex that spontaneously hydrolyze to form 3-phosphoglycerate.Arsenic
Completes with inorganic phosphate as a substrate for Glyceraldehyde 3-phosphate dehydrogenaseArsenic
Poisioning converts Glyceraldhyde-3-phosphate to 1,3 Bisphosphoglycerate skipping Glyceraldehyde 3-phosphate dehydrogenase and resulting in a loss of the production of NADH + H+Arsenic
Inhibits all the enzymes requiring lipoic acid as a coenzymeArsenite
Forms a stable complex with thiol (-SH) groups of lipoic acid, making lipoate compound unavailable as coenzyme. Arsenite
Alpha-Ketoglutarate Dehydrogenase Complex is inhibited by Arsenate
Pi-H+ symporter of the ETC which transports H+ and Pi across IMM is inhibited by Arsenate
Key signs: vision changes, ataxia and impaired memory. Seen as secondary to alcoholismWernicke-Korsakoff syndrome
Nystagmus, ophthalmoplegia, cerebellar ataxia, confusion, loss of memory (anterograde and retrograde amnesia) and confabulatory psychosis Wernicke-Korsakoff syndrome
An X-linked dominant condition with symptoms and signs include neurodegeneration, muscle spasticity, congenital lactic acidosis and early death.Pyruvate Dehydrogenase (PDH E1) Deficiency
Results from defects in mitochondrial ATP production, as a result of mutations in the PDH complex, electron transport chain or ATP synthase; or deficiency of thiamine or niacin as the brain is unable to produce sufficient ATP if the PDH complex is inactive.Leigh syndrome (subacute necrotizing encephalomyelopathy)
A deficiency or defect in fructokinase, a benign condition and patient remains nearly asymptomatic, fructose appears in urineEssential Fructosuria
Deficiency or defect in aldolase B with symptoms appearing when fruit juices are introduced for the first time, hypoglycemia, hyperuricemia, lactic acidosis, and jaundiceHereditary fructose intolerance (HFI)
Due to deficiency of galactokinase, galactosemia, galactosuria, accumulation of galactitol in lens leads to development of cataract, Mental retardation is NOT seenNon-Classical Galactosemia
Due to deficiency of galactose 1-phosphate uridyl transferase enzyme (GALT). Accumulation of galactitol in lens leads to development of cataract, hyperbilirubinemia, jaundice, mental retardation.Classical Galactosemia
Mainly affects people of African, Middle Eastern and South Asian descent, generally asymptomatic unless triggered by certain drugs increasing reactive oxygen species which include anti-malarial, sulfonamides, certain analgesics, some non-sulfa antibiotics Glucose-6-Phosphate Dehydrogenase (G6PDH) Deficiency
Increase in 2,3 BPG, presence of Heinz body, sever hemolytic anemiaGlucose-6-Phosphate Dehydrogenase (G6PDH) Deficiency
Due to deficiency of glucose-6-phosphatase, inability to maintain an adequate blood glucose level, doll-like face with fatty cheeks, protuberant abdomen that is due to massive hepatomegaly, renomegaly, lactic acidosis, keto acidosis, hyperlipidemia, hyperuricemia, hyperventilation and apparent respiratory distress. Secondary to enhanced generation of the PRPP precursor ribose 5-phosphate along with lactic acidosis.von Gierke’s Disease
Due to Deficiency of lysosomal acid α-1,4 glucosidase or α-1,6 glucosidase or both (acid maltase), signs of muscle weakness, severe muscle weakness, resulting in an overall “floppy baby” appearance because of poor muscle tone, head, hands, legs fall outward into a “frog-like” position, difficulty sucking and swallowing, enlarged tongue, failure to meet developmental milestones such as rolling over, sitting up, crawling, and walking, or regression, severe cardiomegaly, heart rhythm changes and heart failure, difficulty breathing and respiratory infections with eventual respiratory failurePompe's Disease
Due to deficiency of muscle glycogen phosphorylase, exercise intolerance with muscle cramps, myoglobinuria after exercise, serum creatine kinase (CK-MM) is usually elevated at rest and increases after exercise, increases the levels of blood ammonia, inosine, hypoxanthine, and uric acidMcArdle’s Disease
Due to defect or deficiency of phosphofructokinase in muscle and erythrocytes (RBCs). Prevalent in Ashkenazi Jews and Japanese population, exercise intolerance with muscle cramps, myoglobinuria after exercise, serum creatine kinase (CK-MM) is usually elevated at rest and increases after exercise, hemolytic anemia leading to increased bilirubin levels and jaundiceTarui's Disease
Due to deficiency or defect in branching enzyme, accumulation of glycogen with long outer branches with very few branch points, failure to thrive, hypotonia, hepatomegaly, splenomegaly, progressive liver cirrhosis and failureAnderson Disease
Due to deficiency or defect in debranching enzyme, accumulation of glycogen with short outer branches, hepatomegaly, growth retardation, muscle weakness, hypoglycemiaCori or Forbes Disease
A group of lysosomal storage diseases in which there is a deficiency of one or more of the acid hydrolase enzymes. Can present in three ways: As a dysmorphic syndrome; with learning difficulties, Behavioral disturbance and dementia; As a severe bone dysplasia.Mucopolysaccharidoses
Hepatosplenomegaly, coarse facial features and macroglossia, hearing loss, progressive learning difficulties, kyphoscoliosis and corneal clouding and cardiomyopathy. Dermatan sulfate (DS) and heparan sulfate (HS) seen upon urinalysisHurler Syndrome
Deficiency of the enzyme α-L-IduronidaseHurler Syndrome
Hepatosplenomegaly, coarse facial features and an enlarged tongue, hearing loss, progressive learning difficulties, cardiomyopathy maybe seen, prominent Mongolian blue spots and a papular rash. Dermatan sulfate (DS) and heparan sulfate (HS) seen upon urinalysis Hunter Syndrome
Deficiency of Iduronate sulfataseHunter Syndrome
Physical defects are relatively mild, while the mental retardation is severe. First phase: consists of developmental delay alone, often primarily affecting speech. Second phase: severe behavioral disturbance, characterized by hyperactivity, challenging behavior and profound sleep disturbance. Third Phase: continuing loss of skills and slow deterioration into a vegetative state. Heparan sulfate (HS) seen upon urinalysisSanfilippo Syndrome
Deficiency of multiple acid hydrolasesSanfilippo Syndrome
Presents with severe motor and cognitive retardation. Skeletal abnormalities (kyphoscoliosis, dwarfism), hepatosplenomegaly, macroglossia, corneal clouding, repeated respiratory infectionI-cell Disease
Patients are severely deficient in the activity of GlcNAc phosphotransferase (N-acetylglucosamine phosphotransferase)I-cell Disease
The inclusion bodies contained macromolecules that could be stained with Sudan black B (lipids) and periodic acid Schiff (PAS; glycogen)I-cell Disease
Decay accelerating factor (DAF) and CD59 are not properly anchored to red blood cells because of the faulty GPI linkage. Without these proteins linked to the cell surface the complement system can lyse RBC's. All other cells have transmembrane forms of DAF and CD59Paroxysmal Nocturnal Hemoglobinuria
Diagnosed by using Ham's test (dropping the blood pH). RBCs lyse at pH 6.2. Normal RBCs do not lyseParoxysmal Nocturnal Hemoglobinuria
Deficiency of dipamitoyl lecitihin (dipalmitoyl phosphotidylcholine) in infantsInfant Respiratory Distress Syndrome
Usually seen in infants born at 26-28 weeks and begins shortly after birth and is manifest by tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, flaring of the nostrils and cyanosis during breathing effortsInfant Respiratory Distress Syndrome
How often and how well the gallbladder contracts and presence of proteins in the bile which forms “the nidus” are factors that may result inCholelithiasis
Increased levels of the hormone estrogen as a result of pregnancy, hormone therapy, or the use of combined (estrogen-containing) forms of hormonal contraception, may increase cholesterol levels in bile and also decrease gallbladder movement increases the risk ofCholelithiasis
Other risk factors include female sex, overweight, age near or above 40 (fatty female at forty)Cholelithiasis
May remain largely asymptomatic or may presents with feeling of abdominal fullness (distention), flatulence, increased satiety, and some other non-specific abdominal symptomsCholelithiasis

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