Term
|
Definition
Nonprogressive hyperglycemia
(Normal: glucose -> G6P) |
|
|
Term
| Pyruvate kinase deficiency |
|
Definition
Hemolytic anemia; decreased ATP from glycolysis
95% of glycolytic enzyme deficiencies
(Normal: phosphoenolpyruvate -> pyruvate) |
|
|
Term
| Pyruvate dehydrogenase deficiency |
|
Definition
Neurodegenerative disorder; ataxis; psychomotor delay; lactate accumulation
(Normal: pyruvate -> acetyl CoA) |
|
|
Term
| Pyruvate carboxylase deficiency |
|
Definition
Lactic acid accumulation in bloodstream; delayed development; muscle weakness; ataxia; seizures; vomiting
(Normal: Pyruvate -> oxaloacetate) |
|
|
Term
| Phosphofructokinase deficiency |
|
Definition
Glycogen accumulates in muscles; inefficient use of stores; hemolytic anemia and cramping
(Normal: Fructose 6-phosphate -> F1,6-bP) |
|
|
Term
| Glycogen synthase deficiency |
|
Definition
Fasting hypoglycemia with occasional muscle cramping
(Normal: UDP-glucose -> Glycogen) |
|
|
Term
Branching enzyme deficiency
(Andersen disease) |
|
Definition
Reduced solubility of glycogen due to long branches; cirrhosis; failure to thrive
(Normal: Glycogen rearrangement (1,4 > 1,6)) |
|
|
Term
Liver phosphorylase deficiency
(Hers disease) |
|
Definition
Extreme enlargement of liver due to glycogen accumulation; mild to no hypoglycemia
(Normal: Breakdown of glycogen > glucose-1P) |
|
|
Term
Muscle phosphorylase deficiency
(McArdle disease) |
|
Definition
Exercise-induced cramps and pain secondary to rhabdomyolysis and possible renal failure
(Normal: glycogen -> glucose-1P) |
|
|
Term
Debranching enzyme deficiency
(Cori disease) |
|
Definition
Deficiency of liver and muscle enzymes; hepatomegaly, hypoglycemia during fasting, and myopathy
(Normal: Limit dextrin breakdown) |
|
|
Term
|
Definition
| Lysosomal storage disease; accumulation of glycogen within the lysosome |
|
|
Term
| Phosphorylase kinase deficiency |
|
Definition
Hepatomegaly, growth retardation, delayed motor development, and increased blood lipids
(Normal: Phosphorylates glycogen phosphatase) |
|
|
Term
Glucose-6-phosphatase deficiency
(Von Gierke disease) |
|
Definition
Accumulation of G6P, severe hypoglycemia, lethargy, seizures, brain damage, hepatomegaly, increased
bleeding, growth retardation
(Normal: Glucose-6-phosphate -> glucose) |
|
|
Term
|
Definition
Severe cerebral atrophy, optic atrophy, fatty infiltration of liver and kidney, intractable hypoglycemia
(Normal: oxaloacetate -> phosphoenolpyruvate) |
|
|
Term
| Fructose-1,6-bisphosphatase deficiency |
|
Definition
Neonatal hypoglycemia, acidosis, irritability, tachycardia, dyspnea, hypotonia, and moderate hepatomegaly
(Only affects liver enzyme)
(Normal: Fructose 1,6-bisphosphate -> F-6-P) |
|
|
Term
| Lactate dehydrogenase deficiency |
|
Definition
Muscle cramping and myoglobinuria after exercise
(Normal: Pyruvate <-> lactate) |
|
|
Term
Fructokinase deficiency
(Benign fructosuria) |
|
Definition
| Fructose in urine; diagnosed incidentally |
|
|
Term
Aldolase (b) deficiency
(Hereditary Fructose Intolerance) |
|
Definition
Fructose in urine; hypoglycemia; vomiting after fructose ingestion; poor feeding; hepatomegaly; jaundice; kidney damage; hepatic failure; low Pi and high Mg2+
(Normal: Fructose-1-phosphate -> glyceraldehyde + DHAP) |
|
|
Term
Galactokinase deficiency
(Non-classic galactosemia) |
|
Definition
| Increased galactose in blood and urine; cataracts in infants without dietary adjustments |
|
|
Term
Galactose-1-phosphate uridyltransferase (GALT) deficiency
(Classic galactosemia) |
|
Definition
Hepatomegaly, jaundice, hypoglycemia, convulsions, lethargy, cataracts, mental retardation, cirrhosis
(Normal: Galactose-1-phosphate -> UDP-galactose) |
|
|
Term
| UDP-glucose epimerase deficiency |
|
Definition
Benign -or- symptoms similar to classic galactosemia, plus hypotonia and nerve deafness
(Normal: UDP-glucose <-> UDP-galactose) |
|
|
Term
| Galacticol or sorbitol accumulation |
|
Definition
| Problem with aldose reductase or NAD-sorbitol-s-dehydrogenase; increases osmotic pressure of cells and promotes swelling; nerve, lens, and liver cell damage (where fructose is metabolized) |
|
|
Term
| Glucose-6-phosphate dehydrogenase deficiency |
|
Definition
Insufficient amounts of NADPH made; glutathione not adequately reduced; loss of protection from oxidative stress damage (especially in RBCs); hemolytic anemia; Fava beans
(Normal: G-6-P -> -> Ribulose-5-phosphate) |
|
|
Term
Transketolase / thiamine pyrophosphate binding defect
(Wernicke-Korsakoff Syndrome) |
|
Definition
Neuropsychiatric disorder; difficulty in eye movements, abnormal gait, mental dysfunction
Normal: 2 5C sugars -> 3C and 7C sugars |
|
|
Term
Defective mannose-6-phosphate tagging
(I-cell disease) |
|
Definition
| Hydrolytic enzymes secreted from cell rather than transported to lysosomes; substrates accumulate within lysosomes to make inclusion bodies; skeletal abnormalities; joint impairment; coarse facial features; psychomotor impairment |
|
|
Term
| Medium-chain acyl CoA dehydrogenase deficiency |
|
Definition
| Problems with oxidation of fatty acid chains between 6-10 carbons in length; in hypoglycemic conditions, fatty acids cannot be fully oxidized for energy |
|
|
Term
|
Definition
| Peroxisomal formation disorder; accumulation of very-long-chain fatty acids; congenital craniofacial dysmorphism, psychomotor retardation, and seizures |
|
|
Term
|
Definition
| Very-long-chain fatty acid accumulation in brain (causing demyelination) and accumulation in adrenal cortex; inability to transport very-long-chain fatty acids into peroxisomes; psychomotor retardation and seizures |
|
|
Term
| Beta-globin gene splicing problem |
|
Definition
|
|
Term
|
Definition
| Point mutation (missense) of A -> T, making Glu -> Val, preventing proper folding of beta-globin |
|
|
Term
|
Definition
| Binds to and inhibits subunit of pyruvate dehydrogenase complex, causing impaired acetyl CoA production and impaired energy production, as it blocks the TCA cycle |
|
|
Term
|
Definition
| Complex I of ETC; inhibits NADH dehydrogenase, causing NADH accumulation |
|
|
Term
|
Definition
| Complex I of ETC; prevents reduction of Coenzyme Q |
|
|
Term
|
Definition
| Complex I of ETC; Inhibits NADH dehydrogenase |
|
|
Term
|
Definition
| Complex III of ETC; prevents reoxidation of cytochrome b, preventing electron transport from b->c1 |
|
|
Term
| Cyanide, H2S, sodium azide, CO |
|
Definition
Complex IV of ETC
Combines with cytochrome oxidase (a and a3) and blocks transfer of electrons to oxygen |
|
|
Term
|
Definition
| Complex IV; serves as an ETC uncoupler |
|
|
Term
|
Definition
| Binds to pore of ATP synthase and prevents protons from returning to mitochondrial matrix; also an uncoupler |
|
|
Term
|
Definition
| Binds to stalk of ATP synthase and prevents return of protons to mitochondrial matrix |
|
|
Term
|
Definition
| Decoupler at high concentrations |
|
|
Term
|
Definition
| Prevents ATP-ADP antiport and causes mitochondrial ADP depletion |
|
|
Term
|
Definition
| Inhibits topoisomerase; used to treat lung, ovarian, testicular, and prostate cancer |
|
|
Term
|
Definition
| Inhibits DNA gyrase; used to treat infections |
|
|
Term
|
Definition
| Guanosine analog with no ribose sugar; terminates growing chain |
|
|
Term
|
Definition
| Binds to DNA and inhibits elongation of RNA transcription by RNA polymerase; used in some pediatric cancer treatments |
|
|
Term
|
Definition
| Halts mRNA synthesis and protein synthesis (RNA polyII); found in death cap mushroom |
|
|
Term
|
Definition
| Binds to 30S ribosomal subunit and blocks access of aminoacyl-tRNA to mRNA-ribosomal complex |
|
|
Term
Gentamicin
(Aminoglycosides) |
|
Definition
| Binds to 30S ribosomal subunit and prevents assembly of functional ribosomal apparatus |
|
|
Term
|
Definition
| Binds to 50S ribosomal subunit and inhibits translocation of growing peptide |
|
|
Term
|
Definition
| Analog of aminoacyl-tRNA; inhibits translation because it acts as a chain terminator |
|
|
Term
|
Definition
| Binds to peptidyltransferase and halts protein synthesis |
|
|
Term
|
Definition
| Catalyzes ADP-ribosylation of EF-2, inhibiting translation; causes respiratory tract disease |
|
|
Term
| Vinblastine, taxol, colchicine |
|
Definition
| Prevent proper assembly or dis-assembly of cell cycle cytoskeletal proteins (like microtubules) |
|
|
Term
|
Definition
| Blocks nucleoside synthesis |
|
|
Term
|
Definition
| Disrupts Vitamin-K dependent pathway, causing poor clotting -- used as blood thinner |
|
|
Term
|
Definition
| Inhibits hepatic gluconeogenesis to control rate in hyperglycemic patients |
|
|
Term
|
Definition
| Competitive inhibitors; HMG-CoA reductase; reduces serum levels of cholesterol |
|
|
Term
|
Definition
| Increases effectiveness of antithrombin, inhibiting coagulation cascade |
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