Etc. Flashcards
Metal Ion Cofactors (Cu, Fe, Mg, Se, Zn)
Cu: cytochrome c oxidase Fe: heme proteins Mg: ATPases Se: glutathione peroxidase Zn: superoxide dismutase
Examples of irreversible inhibitors
Pb, organophosphates, CN, sulfide, aspirin
Bone disease
Alkaline phosphatase
Obstructive liver disease (2)
Sorbitol DH and Lactate DH (LDH-5)
Prostate cancer
Acid phosphatase
Acute pancreatitis
Amylase
Muscular dystrophy (2)
Aldolase and ASH
Liver disorder
CK-MM
Niemann-Pick Disease
Deficiency in A-SMase –> cannot breakdown sphingomyelin.
Leads to hepatomegaly, slenomegaly and neuro problems.
Hallmark “cherry red spot” in the eye.
Erythroblastosis fetalis
Mom is Rh- and fetus is Rh+. Mom produces ABs that attack fetus in pregnancy. Risk is higher in subsequent pregnancies.
Spur Cell Anemia
Elevated cholesterol in RBC decreases fluidity/flexibility of membrane causing lysis as they pass through splenic capilaries.
Cystic Fibrosis
Mutation in the CFTR gene, causing buildup of Cl- in the airway epithelial cells. This causes increase in intracellular NaCl, causing influx of H2O. Leads to thicker mucous and increase risk of infections.
Cystinuria
Defect in transport for Cys, Arg, Lys, Orn. Results in Cystine crystals in kidney. Present w/ renal cholic.
Hartnup Disease
Defect in transporter for nonpolar or neutral AAs.
Results in cerebellar ataxia, photodermatitis, and photosensitivity.
Cardiotonic drugs
Inhibit Na/K - ATPase pump, leading to an increase in IC Ca2+ resulting in strong heart contraction.
Tarui Disease (GSD)
Deficient in PFK-1.
Results in muscle cramps/weakness, hemolytic anemia, jaundice.
Sx usually mild.
F 1,6-BP Deficiency
Similar to Tarui’s. (d/o of GNG)
Von Gierke Disease
Deficiency in G 6-phosphatase. (d/o of GNG)
Fanconi-Bickel Syndrome
Caused by mutation in GLUT 2 transporter. Unable to take up Glc, Fru, Gal.
Failure to thrive, hepatomegaly.
GALT deficiency
Accumulation of galactitol.
Failure to thrive, liver failure.
Gal met d/o.
Galactokinase Deficiency
Accumulation of Gal and galactitol in blood and urine.
Leads to cataracts.
Gal met d/o.
D/O associated with enzyme deficiencies in glycogen metablism (5)
GSD 0 GSD II - Pompe Disease GSD III - Cori Disease GSD IV - Andersen Disease GSD V - McArdle Disease GSD VI - Hers Disease (PCAMH)
GSD 0
Defective enzyme: glycogen synthase
Pathway affected: glycogenesis, chain elongation.
Rely on Glc in diet and must eat frequently.
GSD II
Pompe Disease
Defective enzyme: acid maltase.
Pathway affected: lysosomal glycogenolysis; release of Glc.
Disrupts function of muscle (skeletal and cardiac) and liver cells, leading to muscle weakness and myopathies.
GSD III
Cori Disease
Defective enzyme: debranching enzyme
Pathway affected: glycogenolysis; Glc release from a branch point.
GSD IV
Andersen Disease
Defective enzyme: glucosyl (4:6) trasnferase
Pathway affected: glycogenesis; chain branching
Cirrhosis, fatal by 5 years.
GSD V
McArdle Disease
Enzyme affected: muscle glycogen phosphorylase
Pathway affected: glycogenolysis; Glc 1-P release
Cannot supply enough Glc to muscles
GSD VI
Hers Disease
Enzyme affected: liver glycolysis phosphorylase
Pathway affected: glycogenolysis; Glc 1-P release
Low blood Glc levels, hepatomegaly
Mitochondrial defects of catabolism of FAs (4)
CPT 1 def
CACT def
CPT II def
MCAD def
Peroxisomal defects of catabolism of FAs (4)
Zellweger syndrome Infantile Refsum disease X-linked adrenoleukodystrophy Adult Refsum disease (ZIXA)
MCAD Deficiency
Impairs breakdown of MCFAs, leads to secondary carnitine deficiency. Pts must depend on glucose.
