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62 Cards in this Set
- Front
- Back
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Macular Corneal Dystrophy |
Deficient in Carbohydrate Sulfotransferase 6 which leads to deficiency of undersulfated Keratin sulfate in cornea
-Cloudy corneas, vision impairment |
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osteoarthritis, rheumatoid artritis, systemic lupus erythematosus |
excessive degradation of proteoglycans
defective cartilage function |
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Hunters syndrome |
Deficient in iduronidate sulfatase, an X-linked deficiency. Degrades heparin and dermatin sulfate
-No corneal or clouding -physical deformity, mental retardation |
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Hurlers syndrome |
deficient in alpha liduronidase, also deficient in heparan sulfatase and dermatin sulfatase
-Corneal clouding, mental retardation, upper airway obstruction, dwarfing, coarse facial features
-can be treated with bone marrow therapy |
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Sanfilippo Syndrome (types A-D) |
Deficient in... Type A: Herparan Sulfamidase deficiency Type B: N-Acetylglucosamidase Deficiency Type C: Glucosamine-N-acetyltransferase Type D: Acetylglucosamine 6-sulfatase
Severe nervous system disorders |
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Sly syndrome |
Deficient in beta-glucuronidase Degrades dermatan sulfate and haparan sulfate
Causes herpatospienomegaly, skeletal deformity, short stature, corneal clouding, mental deficiency |
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influenza virus (HxNy) |
Hemmagglutin binds to salic acid (on cells) which faciliates viral entry Neuraminidase (enzyme) cuts the salic acid and faciliates release of new viruses
Treatment: tamiflu, (competitive inhibitor against Neuraminidase) |
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Mucolipidoses II |
deficient in mannose phosphorylation on lysosomal enzymes, causes enlarged lysosomes
results in skeletal abnormaliyird, restricted joint movement, coarse facial features, severe psychomotor impairment, death |
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Gynecomastia |
Deficient in glucuronidation and cant clear estrogens
results in male boobies |
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Gray Baby Syndrome |
low levels of glucuronyl transferase thus can not clear chloramphenicol
causes inhibition of mitochondria, metabolic acidosis, cyanosis, lethargy, vomiting, irregular respiration
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blood group antigens (what enzyme deficiencies results in what blood group?) |
Type O: defective glycoslytransferase Type A: defective in N-acetylgalactoasime Type B: defective in galactosyltransferase Type AB: both glycosyltransferases |
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GM1 Ganglioasidosis |
deficient in beta-galactosidase --> accumulation of G1 gangliosides and ketatin sulfataste
Symptoms: neurological deterioation, herpatosplenomegaly, skeletal deformities, cherry red macula |
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Tay Sachs Disease |
Deficient hexosamidase A --> accumulates GM2 gangliosides
symptoms: rapid/progressive neurodegeneration, blindness, cherry red macula, muscular weakness, seizures |
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Sandhoffs Disease |
Deficient in beta-hexosaminidase A/B --> accumulation gangliosides and globosides
Symptoms: rapid/progressive neurodefeneration, blindness, cherry red macula, muscular weakness, seizures, visceral involvement |
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gaucher |
deficient of glucocerebrosidase--> accumulated glucocerebrosides -Most common lysosomal disease -symptoms: hepatosplenomegaly, osteoporosis of long bones, CNS involvement in rare infantile and juvenile forms |
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Metachromatic leukodystrophy |
Deficient: Arylsulfatase A --> accumulates sulfatidase
Symptoms: cognitive deterioration, demyelination, progressive paralysis |
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Krabbe |
Deficient galactocerebrosidase --> accumulates galactocerebrosides
symptoms: mental and motor deterioration, blindness/deafness, near-total loss of myelin, gluboid bodies in white matter of brain
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niemann-pick |
deficient in spingomyelinase --> accumulates sphingomyelin
symptoms: hepatosplenomegaly Neurodegenerative course type A |
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Farber |
deficient in ceraminidase --> accumulates ceramide
symptoms: subcutaneous nodules of lipid-laden cells, hoarse cry, tissue show granulomas |
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GLUT 1 deficiency syndrome |
inherited disorder --> decrease GLUT 1 --> decrease glucose in cerebrospinal fluid --> seizures in infants/developmental delay |
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Phosphofructokinase 1 deficiency |
leads to inefficient use of glucose storages of RBCs
hemolytic anemia muscle cramping
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Aldolase A deficient
Aldolase B deficient |
A] non-spherical hemolytic anemia Rhabdomyolysis (breakdown of muscle) febrile illness (kidney damage)
B] fructose intolerance and lactic ademia |
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Deficiency of Triose Phosphate isomerase (TPI) |
neonatal onset anemia progressive hypotonia --> diaphram pharalysis and cardiomyopathy |
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Deficiency in Thamine (B1) and niacin (B3) |
inability to generate ATP/accumulation of kreb cycle precursors.
results in neurological/cardiovascular disorders |
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Congenital lactic academia |
caused by deficiency in pyruvate dehydrogenase -leads to excessive lactic acidosis since birth (since too much pyruvate, which converts to lactate) -leads to neurological disorders because -uses acetyl CoA for energy and sensitive to acidosis
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Arsenic poisoning |
inhibits pyruvate dehydrogenase (lipoic acid) and glyceraldehyde-3-dehydrogenase stops ATP @ substrate level phosphorylation and TCA cycle
leads to neurological damage and death |
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Fluoracetate toxin |
a suicide inhibitor that decreases aconitase. leads to decrease TCA leads to death (fluoroacetyl-CoA + OAA -> fluorocitrate inhibits aconitaste) |
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pyruvate kinase deficiency |
-decreases ATP production thus disrupting cell membrane gradient --> loses ions/water --> RBCs contract and die -results in too much 2,3-diphosphoglycerate |
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Amytal and rotenone |
sedative/hypnotic and insect control blocks NADH dehydrogenase (complex 1) |
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Antimycin |
stops electron flow from cytochrome B to cytochrome C |
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carbon monoxide/Cyanide |
inhibits complex 4
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Oligomycins |
Stops ATP synthase, causes high lactate levels in blood/urine |
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Carbon monoxide / cyanide |
blocks complex 4 (right before atp synthase) |
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fatal infantile mitochondrial myopathy |
inhibits protein synthesis of complex 1,2,3,4
liver failure neurological abnormalities hypoglycemia increased lactate |
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deficiency in NADH: ubiquitone oxidoreductase (complex 1) |
deficient in complex 1
lactic acidosis mitocondrial encephalopathy (dementia) strokes lactic acidosis |
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Lebers hereditary optic neuropathy |
point mutation in cytochrome reductase
loses vision at age 20-30 |
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kearn saye syndrome |
defect in complex 2, aka succinate dehydrogenase
short stature complete external ophthalmopgia pigementary retinopathy ataxia cardiac conduction defects |
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Leighs disease |
mtDNA disorders on any of the complexes (1,2,3,4)
lactic acid development delay seizure extracular palsies hypotonia death by age 2 |
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2,4-dinitrophenol (DNP) |
lipid soluble ionophore carries protons from intermembrane space into matrix defeats proton gradient thus energy released as heat
causes: hyperthermia, tachycardia, diaphoresis, tachypnea, death |
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Atractyloside |
inhibits ANT thus stops oxidative phosphorylation |
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Valinomycin |
potassium ionophore facilitates K+ transfer across inner mitochondrial membrane |
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Von gierke disease |
glucose 6 phosphatase deficiency prevents glucose 6-P --> glucose
causes: hepatomegaly, renomegaly severe hypoglycemia, increased lipids, lactic acid, uric acid glycogen accumulation |
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Pompe disease (type 2) |
deficient in alpha glucosidase (lysosomal)
causes cardiomegaly, has normal blood glucose levels glycogen accumulates in the lysosome |
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Cori disease (type 3) |
deficient in debranching enzyme (muscle/liver)
causes hepatomegaly, skeletal/cardiomyopathy, ketoic hypoglcemia after fasting, increased lipids and elevated CK causes glycogen accumulation in liver/muscle |
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Anderson disease (type 4) |
deficient in branching enzyme (liver/muscle)
causes hepatomegaly, cirrhosis, skeletal and cardiomyopathy normal glucose levels glycogen is elongated, fibrillar structure, less soluble, precipitates causing cell damage |
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McArdle disease (type 5) |
deficient in glycogen phosphorylase (skeletal muscle)
causes cramping of skeletal muscle during exercise normal glucose levels, increased myoglobin in urine, increased CK
no increase lactate after exercise
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Hers disease (type 6) |
glycogen phosphorylase deficiency in liver
causes hepatomegaly, ketoic hypoglycemia after fasting, mild increase in lipids
glycogen accumulation in liver |
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Duschenne muscular dystrophy and becker muscular dystrophy |
dsytrophin deficient (participates in linking muscle cytoskeleton with membrane proteins on the sarcolemma
wheelchair bound by age 13 |
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Hypoketotic disease (hypoketotic hypoglycemia) |
-ketone bodies not produce in liver
-gluconeogenesis is deficient in liver -glucose is low in circulation -leads to elevated blood levels of liver enzymes and ammonia |
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classic refsum disease |
phytanic acid hydroxylase deficiency
-affects neverous system -leads to blindness -lack of ability to smell deafness neuropathy ataxia elevated plassma phytanic acid levels |
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x-linked adrenoleukodytrsophy (X-ALD) |
defective peroxisomal very long chain fatty acid transporter
-wide range of neurological problems -demyelination in nervous system adrenyl insufficiency and elevated very long fatty acid chains in plasma
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peroxisome biogenesis disorders, zellweger syndrome spectrum (PBR, ZSS) |
defects in peroxins needed for peroxisome assembly
-generalized nervous system disorder, includes demyelination -liver dysfunction, elevated very long fatty acid chain levels is plasma |
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ketoacidosis |
elevated ketone bodies in blood
caused by type 1 diabetes and chronic alcohol consumption ketone acidosis (duh) |
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MCAD (medium chain acyl CoA) |
deficiency of acyl Coa dehydrogenase
increased medium lengthen acycarnitine and dicarboxylic acids in plasma and urine (adipic and subaric aciids most common in urine) -responsible for some sudden deaths during infancy -treated with glucose and carbohydrates rich diet |
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primary carnitine deficiency (lack of carnitine transport into cells) |
low plasma carnitine and acylcarnitine levels -elevated carnitine in urine
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carnitine palmitoyl transferase IA deficiency (liver only) |
elevated free carnitine plasma levels elevated free carnitine/acyl (C16-18) carnitine ratio |
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carnitine-acylcarnitine translocase deficiency |
-low plasma free carnitine level elevated acyl (C16-18) carnitine levels |
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carnitine palmitoyl transferase II deficiency |
low plasma free carnitine level elevated acyl (C16-18) carnitine levels |
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LDH M isoform childhood onset |
deficient in lactate dehydrogenase
leads to muscle cramping myoglubinuria after intense exercise |
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biotinidase deficiency |
autosomal recessive trait unable to reuse/recycle biotin
symptoms appear after first month of life seizures, hypotomia, breating problems, hearing, vision, hair loss, ataxia, skin rashes and candidiasis |
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deficiency in cytosolic PEPCK (Phosphoenolpyruvate carboxylase) |
atrophy fatty infiltration of liver and kidney and intractable hypoglycemia |
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neonatal hypoglycemia |
deficiency F 1-6 bisphosphate
acidosis, tachycardia hypotonia, moderate hepatomegaly, irritability |
