Term
| Hereditary Hemochromatosis (HH) |
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Definition
- missense mutations in HFE gene (C282Y mutation)
-disorder of iron metabolism that results in cirrhosis, diabetes, skin pigmentation and heart failure |
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Term
| Duchene muscular dystrophy |
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Definition
X-linked, due to frameshift mutation in dystrophin protein leading to no functional protein
-patients have proximal muscle weakness, with death from cardiac or respiratory failure |
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Term
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Definition
-characterized by arthralgias and proximal muscle weakening
-anti-Jo-1 antibodies found in these patients |
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Term
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Definition
| ADP-ribosylation of EF-2, inhibiting translocation in eukaryotes |
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Term
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Definition
| gene amplification of N-myc gene |
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Term
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Definition
| plant toxin that inactivates the 60S subunit of the ribosome |
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Term
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Definition
-due to lack of lysosomal enzymes
-Man-6-P is not added to lysosomal enzymes and they are secreted
_defect in GlcNAc phosphotransferse
- dwarfism, grotesque face, joint defects, distended abdomen, mental retardation |
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Term
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Definition
| babies' increased ability to conjugate glucuronic acid onto drugs such as chloramphenicol can result in this sydrom |
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Term
| Leukocyte adhesion deficiency (LAD) II |
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Definition
deficiency to glycocylate ligands for cell surface selectins which mediate immune cell migration
-patients are prone to recurrent life-threatening infections |
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Term
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Definition
| mutation of CFTR Cl- membrane transporter causes viscous secretions of the respiratory tract with recurrent life-threatening pulmonary infections |
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Term
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Definition
-mutation in the microfibril "Fibrillin - 1" with is found in ECM.
- patients present with excessively long extremities and fingers, arachnodactyly and predisposition to dissecting aortic aneurysms and valvular diseae |
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Term
| Creutzfeldt-Jakob disease |
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Definition
| transmission of a proteinaceous agent that is capable of altering the normal helical arrangement of prion protein and replacing them with beta pleated shees |
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Term
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Definition
neuromuscular diease
-mutations in hsp's |
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Term
| alpha-antitrypsin (AAT) deficiency |
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Definition
AKA:serum trypsin inhibitor (serpin), protects tissues from elastase
-results in misfoldeed protein that gets trapped within the cell
-most commonly a point mutation
-manifests with cirrhosis and emphysema
-cigarette smoke can lead to oxidation of the enzyme decreasing its activity |
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Term
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Definition
| -expansion of polyglutamine repeats in huntington protein |
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Term
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Definition
| amyloidosis of beta amyloid |
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Term
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Definition
| Amyloidosis of Ig light chain, causing renal and heart failure |
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Term
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Definition
defect in ability to transfer enzymes from lysosomes to phagocytic vesicles
-have recurrent infections |
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Term
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Definition
defect in synthesis of type I collagen
-distinctive blue sclera |
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Term
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Definition
| -defective spectrin, causing anemia and splenomegaly |
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Term
| Familial Hypertrophic cardiomyopathy |
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Definition
| myosin defect; enlargement of the heart, causes sudden death in young athletes |
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Term
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Definition
defect in collagen
-X-linked characterized by renal failure, nerve deafness and cataracts |
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Term
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Definition
-defect in collagen
-VI: defect in lysyl hydroxylase
-hyperextensible skin |
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Term
| Thyroid dysgenesis/hypothyroidism |
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Definition
| -most common cause of hypothyroidism, lowering BMR |
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Term
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Definition
-lactose is not digested at normal rate and accumulates in the guy where it is metabolized by bacteria
-bloating, abdominal cramps and watery diarrhea result |
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Term
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Definition
| -occurs when excess lipids are excreted into the feces due to lipid malabsorption from impaired lipolysis, micelle or chylomicron formation or transport |
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Term
| Nontropical sprue (adult celiac disease) |
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Definition
-reaction to gluten causes damage the intestinal epithelium
-malabsorption |
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Term
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Definition
-lack of ability to produce HCL
-deficiences in protein digestion and absorption |
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Term
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Definition
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Term
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Definition
| Development can be contributed by untowardly actions of elastase in the lung |
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Term
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Definition
| -transport of cysteine is defective -cystine can crystallize and for kidney stones |
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Term
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Definition
transport of neutral amino acids is defective, resulting in deficiencies of essential amino acids since they are not absorbed in diet -can lead to niacin deficiency |
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Term
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Definition
-biliary obstructions
-pancreatic cancer
-alcohol induced liver disease |
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Term
| Hereditary deficiency of Glut-1 |
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Definition
| results in decrease glucose in the CSF, causing seizures in infancy and developmental delay |
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Term
| Triosphospahte Isomerase deficiency |
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Definition
neonatal onset hemolytic anemia and neurologic involvement
children have cardiomyopathy |
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Term
| Maturity onset diabetes of the young |
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Definition
-autosomal dominant
-mutations in hexokinase gene cause nonprogessive hyperflycemia |
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Term
| Type VII Glycogen Storage disease |
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Definition
-PFK-1 deficiency
-inefficient use of glucose by RBC and muscle causing hemolytic anemia and muscle cramping |
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Term
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Definition
| blocks succinate dehydrogenase |
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Term
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Definition
-inhibits a subunit of PDHC and causing impaired OX PHOS
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Term
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Definition
-neurodegenerative disorder -mild forms exhibit ataxia and mild psychomotor delay related to lactate buildup |
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Term
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Definition
| Rat poison that inhibits aconitase by reacting with oxaloacetate to from fluorocitrate |
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Term
| Fatal Infantile mitochondrial myopathy |
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Definition
decrease activity of mtDNA encoded respiratroy chain complexes
-patients have linver failure and neurologic abnormatlities, hypoglycemia |
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Term
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Definition
| a fish poison that complexes with NADH dehydrogenase, causing NADH to accumulate |
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Term
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Definition
| a barbituate sedative that blokes complex 1 |
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Term
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Definition
-Mitochodrial Encephalopathy, Lactic Acidosis, and Stroke
-Mutatations in complex 1 |
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Term
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Definition
| blocks passage of electrons through complex III |
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Term
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Definition
Leber's Hereditary Optic Neuropathy
-point mutations in Cytochrome reductase gene |
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Term
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Definition
mutations in complex II
-opthalmoplegia, pigmentary retinopathy, cardiac conduction defects |
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Term
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Definition
lactic acidemia, developmental delay, extraocular palsies, fatal by age 2
-usually mutation in cytochrome oxidase |
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Term
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Definition
| combine with cytochrome oxidase |
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Term
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Definition
| an ionophore that uncouple e- transport and ATP production |
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Term
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Definition
-binds to the stalk of the ATP synthase
-it is an uncoupler |
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Term
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Definition
| inhibits ATP/ADP transport |
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Term
| Chronic granulomatous disease |
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Definition
| -deficiency in NADPH oxidase leading to serious recurrent bacterial infections |
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Term
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Definition
cyp50 converts it to CCL3- which causes lipid peroxidation and hepatocellular necrosis
-dry cleaning agent |
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Term
| Amyoptrophic Lateral sclerosis or Lou Gehrig's disease |
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Definition
mutations in intracellular SOD
-progressive ascending paralysis and eventual death from respiratory failure |
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Term
| type 0 glycogen storage disease |
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Definition
deficiency glycogen synthase
-fasting hypoflycemia with muscle cramping |
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Term
| type 0 glycogen storage disease |
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Definition
deficiency glycogen synthase
-fasting hypoflycemia with muscle cramping |
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Term
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Definition
-type IV GD
-deficiency of glycogen branching enzyme
-failure to thrive, cirrhosis, death by age 5 |
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Term
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Definition
defect in liver phosphorylase (typically deficiency of the protein)
-enlargement of the liver |
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Term
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Definition
-muscle phosphorylase deficiency
-exercise induced cramps and pain |
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Term
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Definition
-deficiency of debranching enzyme
-hepatomegaly, hypoglycemia during fasting, myopathy |
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Term
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Definition
| -lysosomal storage diease with accumulation of glycogen within the lysosome |
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Term
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Definition
-deficiency of phosphorylase kinase
-hepatomegaly, growth retardation, delayed motor development, increased blood lipis |
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Term
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Definition
type I glycogens storage disease, deficiency of glucose 6 phosphatase
-severe hypoglycemia, seizures, brain damage, hepatomegaly, growth retardation |
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Term
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Definition
defect in addition of mannose-6P to lysosomal enxymes
-skeletal abnormalities, joint impairment, etc |
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Term
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Definition
| deficiency of hepatic GLUT-2 transporter, effects are similar to patients with vonGeirkes |
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Term
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Definition
-extravasation of milky chyle into the peritoneal cavity of the abdomen
-occurs in conditions such as abdominal surgery, abdominal trauma and cancers |
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Term
| Primary carnitine deficiency |
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Definition
deficiency in the plasma membrane carnitine transporter leading to urinary wasting of carnitine
- |
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Term
| Jamaican vomiting syndrome |
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Definition
| -sudden onset of vomiting, abdominal discomfort and hypoglycemia caused by nonmetabolizable carnitine |
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Term
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Definition
medium chain acyl coA dehydrogenase deficiency
-manifests with hypoglycemia due to fasting because FA are not oxidized for energy |
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Term
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Definition
| accumulation of VLC FA b/c peroxisome is not properly formed |
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Term
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Definition
| VLCFA accumulate in the brain because of inability to transport into peroxisomes |
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Term
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Definition
| -deficiency of LDL receptors |
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Term
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Definition
-block in LDL receptor transport
-autosomal dominant |
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Term
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Definition
| -LDL receptor transport block (partial) |
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Term
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Definition
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Term
|
Definition
| -only one with normal cholesterol |
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Term
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Definition
-disease of cholesterol transport causing low HDL and enlarged liver and spleen
-cholesterol cannot properly exit the cell to bind apo A |
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Term
| Respiratory distress Syndrome |
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Definition
due to deficiency of surfactant
-dipalmitoyl phosphatidyl choline is the primary phospholipid in surfactant |
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Term
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Definition
-deficiency in sphingomyelinase
-mental retardation, spasticity, seizures and ataxia
-autosomal recessive |
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Term
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Definition
-deficiency in alpha-galactosidase A
-acroparesthesia, hypohidrosis |
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Term
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Definition
-beta galactosidase deficiency
-hypertonia, hypereflexia, decerebrate posturing |
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Term
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Definition
-glucocerebrosidase
-hepatosplenomegaly, thrombocytopenia
-autosomal recessive |
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Term
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Definition
-deficiency in hexosiminidase A
-neurodegeneration, developmental delay
-autosomal recessive |
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Term
| 3 beta hydroxylase deficiency |
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Definition
-decreased production of aldosterone, cortisol and androgens
-male infants manifest with ambigious genetalia |
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Term
| 17 alhpa hydroxylase deficiency |
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Definition
decrease production of cortisol and androgens and increase aldosterone
-lack of secondary sexual characteristics puberty |
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Term
|
Definition
-inability for NH3 to be metabolized by urea cycle
-can cause brain damage coma or death |
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Term
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Definition
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Term
| Arginnosuccinate synthetase deficiency |
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Definition
| -elevated levels of citrulline |
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Term
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Definition
| results from absence of transaminase that causes renal failure due to excess oxalate in the kidney |
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Term
| Maple Syrup Urine Disease |
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Definition
-enzyme complex that decarboxylates the branched chain amino acids is defective
-urine has odor, mental retardation and poor myelination can occur |
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Term
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Definition
-defects in phenylalanine hydroxylase or tetrahydrobiopterin synthesis
-phe is converted to phenylketones causing musty urine and mental retardation |
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Term
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Definition
-homogentisic acid accumulates b/c defect in homogentisate oxidase
-can cause degenerative arthritis |
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Term
| Acute lymphocytic leukemia |
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Definition
| -malignant cells are unable to produce asparagine |
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Term
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Definition
| -defective degredation of leucine causing neuromuscular irritability and mental retardation |
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Term
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Definition
-as glutathione stores dwindle, the patient moves from malaise and vomiting to jaundice, encephalopathy and death
-N-Acetylcystein is a medication that replenishes levels of GSH during toxicity |
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Term
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Definition
| overproduce serotonin and metastasize to liver |
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Term
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Definition
-lack of niacin
-Dermatitis, diarrhea, dementia and death
-niacin can be used to treat hyperlipoproteinemia by inhibiting lipolysis in adipose and VLDL and LDL rpoduction |
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Term
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Definition
| patients overproduce adrenally synthesized catocholamines and have inrease VMA |
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Term
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Definition
| Myoclonic Epilepsy with Ragged Red FIbers, mutation in Lys for mitochondria tRNA |
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Term
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Definition
| -mutation in Leu for mito tRNA |
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Term
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Definition
| Leber's Hereditary Optic Neuropathy - antibodies to defective complex I proteins |
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Term
| hereditary orotic aciduria |
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Definition
| -orotic acid is excreted in the urine because UMP synthase is defective |
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Term
| Androgen Insensitivity Syndrome |
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Definition
-mutations in the steroid receptor for androgens
-x-linked disease resulting in lack of masculinization of genetalia |
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Term
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Definition
| fe is oxidizied to +3 ferric states |
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Term
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Definition
decrease of absence of one of the hemoglobin chains
-autosomal recessive |
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Term
|
Definition
-having 2 function genes: anemia (%2 of blacks)
-having 1 functional gene: severe anemia, HbH present (B4)
-having 0 is lethal - Hb Bart |
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Term
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Definition
-heterozygous minor has little or no effect
-homozygous: (major) "Cooley's anemia); severe anemia, expression of some HbF, shortened life expectancy |
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Term
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Definition
Glu->Val subsitution
-homozygotes: anemia, painful infarcts, aplastic crisis, sequestration crisis, infections, renal failure, visceral damage
-heterozygotes: may have anemia; protected from malaria |
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Term
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Definition
| Trinucleotide repeat disease (CGG) in 5'UTR causing mental retardation |
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Term
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Definition
| Trinucleotide repeat (GAA) in intron causing ataxia |
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Term
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Definition
-rare, autosomal dominant
-mutation in nucleotide excision repair genes |
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Term
|
Definition
| -mutation in CSA or CSB causing defective DNA repair |
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Term
| hereditary nonpolyposis colon cancer |
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Definition
| mutation in MutS and MutL |
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Term
| Nijmegen breakage syndrome |
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Definition
| - NBS1 gene is mutated (non-homologous end joining) characterized by chromosome instability and increased cancer |
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Term
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Definition
| caused by excessive production of cortisol by an adrenal tumor |
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Term
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Definition
| hypercortisolemia caused by excessive secretion of ACTH by pituitary tumor |
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Term
|
Definition
-ACTH is responsible for the increased pigmentation observed in patients
loss of adrenocortical steroids, causing loss of Na and water in urine |
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Term
| beta globin gene splicing |
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Definition
| the most common cause of beta-thalassemia are defects in mRNA splicing of the gene |
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Term
| Hereditary Hemochromatosis |
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Definition
-genetic disease associated with mutations in the HFE gene
-mutations are used to screen for this disorder of iron metabolism which results in cirrhosis, diabetes, skin pigmentation and heart failure |
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Term
| Duchenne Muscular Dystrophy |
|
Definition
-x-linked
-due to frameshift mutation in dystrophin protein leading to nonfunctional protein
-muscle weakness and cardiac or respiratory failure |
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Term
|
Definition
| ADP-ribosylates EF-2, thus inhibiting translocation in eukaryotes |
|
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Term
|
Definition
| -gene amplification causes over 300 copies of N-myc gene |
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Term
| von Recklinghausen (neurofibromatosis-1) |
|
Definition
| -cafe-au-lait spots, tumors of peripheral nerve sheath and 7th cranial nerve |
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Term
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Definition
| caused by chromosomal translocation which causes accumulation of malignant B cells that express high levels of bcl-2 |
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Term
| Acute Myelogenous Leukemia |
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Definition
| mutant retinoic acid receptor that blocks white blood cell differentiation |
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Term
| Hunter Syndrome & Hurler Syndrome |
|
Definition
-accumulates heparin sulfate
-x-linked deficiency (hunter) causing mental retardation |
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Term
| Acute Intermittent porphyria |
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Definition
-defect in uroporphyrinogen synthase I
-elevated porphobilinogen and dALA
-does not lead to photosensitivity |
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|
Term
| Congenital erythropoeitic porphyria |
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Definition
| -defect in urophorphyrinogen synthetase III |
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Term
|
Definition
| -defect in coproporphyrinogen |
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Term
|
Definition
uroporphyrinogen decarboxylase deficiency
-causes accumulation of uroporphyrin |
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