Biochem - Block 3 - Diseases and Conditions - Part 1

davidwurbel7's version from 2015-04-19 01:23

Diseases and Conditions

Question Answer
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
Presence of gallstones in the gallbladder may lead to an inflammatory condition characterized by retention of bile in the gallbladder and often secondary infection by intestinal microorganisms, predominantly Escherichia coli and Bacteroides speciesAcute Cholecystitis
Presence of gallstones in the common bile duct and may lead to lipid malabsorption leading to deficiency of essential fatty acids and vitamin A,D,E, and KCholedocholithiasis
Autosomal recessive, loss-of-function mutation in the gene encoding MTPAbetalipoproteinemia
Plasma levels of cholesterol and triglycerides are extremely low. Chylomicrons, VLDLs, LDLs, and Apo B are undetectable in plasma. It presents usually in early childhood with diarrhea and failure to thrive due to lipid malabsorption. Defects in the absorption and transport of fat-soluble vitamins. Markedly deficient in vitamin E, mildly to moderately deficient in vitamin A and vitamin K. It is characterized by spinocerebellar degeneration, pigmented retinopathy, and acanthocytosisAbetalipoproteinemia
Deficiency of LPL, abnormal LPL, or Apo C-II deficiency causing inactive LPLFamilial Lipoprotein Lipase (LPL) Deficiency
Manifests in childhood with recurrent episodes of severe abdominal pain due to acute pancreatitis. Physical examination: lipemia retinalis, eruptive xanthomas, hepatosplenomegaly, hypertriacylgerolemia with fasting TAG levels are almost invariable >1000 mg/dLFamilial Lipoprotein Lipase (LPL) Deficiency
Oxidation of Apo B-100 by oxidative species causes the formation of plaguesAtherosclerosis
Excess accumulation of lipids within a macrophage using scavenger receptor that results in the formation of a form cellAtherosclerosis
Formation and accumulation of collagen fiber made by smooth muscle cells in the blood vessel walls can impair blood flow and eventually can form thrombi/emboliAtherosclerosis
Due to mutation in ATP-binding cassette (ABC) transporter family (ABCG5 and ABCG8) causing an increased absorption of plant sterols in intestine and reduced transport of sterols into bile by the liverSitosterolemia
An increased plasma and tissue levels of sitosterol and other plant sterols, elevated plasma levels of LDL cholesterol, development of tendon xanthomas as well as premature atherosclerosis, episodes of hemolysis due to incorporation of plant sterols in RBC membranes, responds to dietary restriction of cholesterolSitosterolemia
Caused by a large number (>900) of mutations in the LDL receptor gene, homozygotes being much more affected than heterozygotes, homozygous present in childhood with cutaneous xanthomas on the hands, wrists, elbows, knees, heels, or buttocks and accelerated atherosclerosis, which can result in disability and death in childhood. Total LDL-C levels are usually >500 mg/dL and can be higher than 1000 mg/dLFamilial Hypercholesterolemia
Due to mutations in the gene encoding ABCA1, Low plasma HDL-C levels (<5 mg/dL) and extremely low circulating levels of apoA-I; Cholesterol accumulation in the reticuloendothelial system, resulting in hepatosplenomegaly and pathognomonic enlarged, grayish yellow or orange tonsilsTangier Disease
Free cholesterol in circulating lipoproteins is greatly increased. Lack of normal cholesterol esterification. Plasma concentrations of cholesterol esters and lysolecithin are low. Abnormal LDL and VLDL are found in circulation. Progressive corneal opacification due to the deposition of free cholesterol in the lens, very low plasma levels of HDL-C (usually <10 mg/dL), and variable hypertriglyceridemiaFamilial Lecithin Cholesterol Acyl Transferase (LCAT) Deficiency
Reduced activity of HMG-CoA reductase. Decreased activity of LDL-receptors and increase in the serum total cholesterol concentration. Promotes LDL oxidation. Hypertriacylglycerolemia. Decreased hepatic lipase enzyme activity and elevated levels of HDL2 particles. Decreased activity of CETP and excess levels of cholesteryl esters in HDL3. Predisposed to atherosclerotic coronary artery diseaseHypothyroidism
Increased activity of the HMG-CoA reductase. Increased bile excretion of cholesterol. Increased LDL receptor gene expression. Levels of total cholesterol, LDL cholesterol, apolipoprotein B and Lp(a) tend to decrease, Triglyceride levels remain unchanged; decreased levels of HDL2 particles. Increased activity of CETP and increased catabolism of HDL3Hyperthyroidism
Deficiency of medium-chain fatty acyl CoA dehydrogenase. The C8–C12 fatty acids and their esters accumulate in tissues to cause toxicity. Non-ketotic or hypo-ketogenic hypoglycemia due to limitation of ketone body formation and C8-C12 dicarboxylic acids increase in the blood. Profound hypoglycemia during fasting, decrease in pyruvate carboxylase activity due to decreases in acetyl CoAMedium-chain Fatty Acyl CoA Dehydrogenase (MCAD) Deficiency
Muscle ache; mild to moderate muscle weakness. Rhabdomyolysis and myoglobinuria upon exercise. Accumulation of LCFAs in tissues. Severe cases lead to hypoketotic hypoglycemia, hyperammonemia, and death. Episode provoked by prolonged exercise especially after fasting, cold, or associated stress. Symptoms may be exacerbated by high fat, low-carbohydrate diet. Muscle biopsy shows elevated muscle triacylglyceride detected as lipid droplets in cytoplasm. Wasting of acyl-carnitine in urineCarnitine Deficiency
Accumulation of very long chain fatty acids (VLCFA) and branched chain fatty acids (BCFA), high levels of copper and iron in the blood and decreased levels of plasmalogens and bile acids, liver and kidney dysfunction with hepatomegaly, severe neurologic defects, hypomyelination, craniofacial and skeletal malformationsZellweger Syndrome
Peroxisomal phytanic acid hydroxylase deficiency. Buildup of phytanic acid and its derivatives in the plasma and tissues. Cerebellar ataxia, retinitis pigmentosa, and chronic polyneuropathyRefsum Disease
Sudden vomiting 2-6 hours after ingestion, followed by sever severe hypoglycemia leading to convulsions, coma, and death. Found in Jamaica and West Africa. Unripe Ackee fruit contains high levels of hypoglycin A. Hypoglycin A is metabolized to produce methylenecyclopropylacetic acid (MCPA) which interferes with transport of long-chain fatty acids into the mitochondria, and it also inhibits acyl-CoA dehydrogenasesJamaican Vomiting Sickness
Defective Hexosaminidase A enzyme, accumulation the ganglioside GM2. Commonly seen in Ashkenazi Jews. Cherry red macula, blindness, deafness, and unable to swallow. Muscles atrophy leads to paralysisTay-Sachs Disease
Inactivation of both hexosaminidase A and B activity. Accumulation of both GM2 and globoside. Cherry red macula, blindness, deafness, and unable to swallow. Muscles atrophy leads to paralysis Sandhoff Disease
Defective or deficiency of Hexosaminidase A activator protein. Cherry red macula, blindness, deafness, and unable to swallow. Muscles atrophy leads to paralysisSandoff Activator Disease
Deficiency of alpha-galactosidase A. Ceramide trihexoside (globotriaosylceramide) accumulates. Kidney complications are a common and serious effect. Renal insufficiency and renal failure may worsen throughout life. Angiokeratomas (tiny, pink, painless papules) and also episodes of intense, excruciating, burning pain, felt initially in the hands and feet and radiating to other parts of the body. Hypertension and cardiomyopathy are commonly observedFabry Disease
Deficiency of the enzyme glucocerebrosidase. Incidence is high in Ashkenazi Jews. Cytoplasm is blue-gray with striations or a “wrinkled tissue paper” quality. Hepatosplenomegaly, anemia, thrombocytopenia and leukopenia. Serious convulsions, hypertonia, myoclonus, dementia, ocular muscle apraxiaGaucher's Disease
Complete absence of sphingomyelinase enzyme. Hepatosplenomegaly, unsteady gait (ataxia), slurring of speech (dysarthria), and discoordinated swallowing (dysphagia). Foam cells present in bone marrow aspirates and in macrophages and monocytes. Cherry red macula.Niemann-Pick Disease
Deficiency of ceramidase, Hoarseness of voice, joint pain, swollen joints, contracture and arthritis.Farber Disease
Only hyperammonemia is seen leading to neurological effectsCarbamoyl Phosphate Synthetase I Deficiency
X-linked recessive condition, high levels of carbamoyl phosphate seen with hyperammonemia and high glutamine levels occurring as carbamoyl phosphate builds up, oroticaciduria, mental retardation if untreated in individualsOrnithine Transcarbamoylase Deficiency
Citrullinemia seenArgininosuccinate Synthetase Deficiency
Argininosuccinicaciduria seenArgininosuccinate Lyase Deficiency
HyperargininemiaArginase Deficiency
Due to liver disease and the shunting of blood from the portal system leading to elevated levels of circulatory ammoniaAcquired Hyperammonemia
Due to defective PAH gene (phenylalanine hydroxylase gene). Accumulation of phenylalanine in the blood that is well above the normal concentration. Appears normal at birth. Gradually develops varying degrees of irreversible mental retardation if not diagnosed or treated within the first month of life. Baby develops tremors, seizures, eczema, and hyperactivity "musty or mousy odor“ of baby's sweat and urineClassical Phenylketonuria (PKU)
Expectant mother having PKU failing to maintain low-phenylalanine levels will results in babies born with congenital heart disease, growth retardation, microcephaly and mental retardationMaternal Phenylketonuria (PKU)
Defective dihydropteridine reductase (DHPR) which causes deficiency of BH4. Progressive neurological manifestation and eventual death (usually in first 2 years of life) due to deficiency of neurotransmitter activityNon-classical Phenylketonuria (PKU)
Due to genetic defect in tyrosine aminotransferase encoded by the gene TAT, may lead to lesions of the eye and skin as well as neurological problemsHereditary tyrosinemia type 2 (Oculocutaneous tyrosinemia, or Richner-Hanhart Syndrome)
Deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase encoded by the gene HPD. It is frequently observed in newborn infants, especially those that are premature. For the most part, the condition appears to benign, and dietary restriction of protein returns plasma tyrosine levels to normal.Hereditary Tyrosinemia type 3 (Transient Tyrosinemia)
Deficiency of the enzyme fumarylacetoacetate hydrolase, is the most severe form of tyrosinemia. The acute form is associated with liver failure, a cabbage like body odor, renal tubular dysfunction, rickets, polyneuropathy, accumulation of fumarylacetoacetate and maleylacetoacetate, both of which are alkylating agents and can lead to DNA alkylation and tumorigenesis, death generally occurs within first year of lifeHereditary Tyrosinemia type 1 (Hepatorenal Tyrosinemia or Tyrosinosis)
Autosomal recessive deficiency of homogentisic acid 1,2-dioxygenase (homogentisic acid oxidase or homogentisate oxidase). Homogentisic acid accumulates in the body fluids. Quinone derivative accumulates over the cartilage. Oxidized pigments are deposited in bones, connective tissue, sclera, skin, and elsewhere (Ochronosis). Low back pain, Ochronotic arthritis, Presence of dark urine prior to development of other signs. Foci of gray-brown scleral pigment and generalized darkening of ear develop after 30 years of ageAlkaptonuria (Alcaptonuria)
Decreased metabolism of tyramine, elevated tyramine will release norepinephrine. Usually occurs in patients taking MAO Inhibitors. Effects includes vasoconstriction, increased heart rate, increased blood pressure, palpitation, excessive sweating, headacheThe Cheese Effect
Flushing and diarrhea are two most common symptoms. Patient may also show signs and symptoms of niacin deficiency (Pellagra). 5-HIAA seen in urinary analysis.Carcinoid Syndrome
Deficiency of cystathionase enzyme will lead to elevated levels of cystathionine which will be appear in urineCystathionuria
Defect in cystathionine-beta-synthase causes the accumulation of homocysteine which can be converted to methionine, hence will lead to elevation of both homocysteine and methionine; Excessive blood clotting in the arteries and veins increases the risk of strokes and heart attack, signs similar to Marfan’s syndrome, rapid bone loss (osteoporosis), and mental retardation, damage to the neuronal network of the retina, and even loss of vision, lens dislocation is commonly seen generally in inferomedial direction; Treated with pyridoxine supplementationClassic Homocysteinemia
Defect or deficiency of methionine synthase, methyl-cobalamin or folate and its derivatives causes accumulation of homocysteine and possibly show decreased levels of methionine; Excessive blood clotting in the arteries and veins increases the risk of strokes and heart attack, signs similar to Marfan’s syndrome, rapid bone loss (osteoporosis), and mental retardation, damage to the neuronal network of the retina, and even loss of vision, lens dislocation is commonly seen generally in inferomedial direction; Treated with betaine supplementation Non-Classic Homocysteinemia
Defect in branched chain α-keto acid dehydrogenase complex. Burnt sugar smell of urine. Buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their byproducts in the blood and urine. If untreated, suffer severe brain damage (mental retardation), and eventually deathMaple Syrup Urine Disease

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