Term
| Glycogen synthase regulation |
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Definition
Allosteric - G6P activator
Covalent - phosphorylation deactivates
G6P stronger tban phosphorylation |
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Term
| Glycogen phosphatase regulation |
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Definition
Allosteric - AMP activator, glucose and G6P inhibitors
Covalent - phosphorylation activates
Phosphorylated by phosphorylase kinase activated by Ca2+ calmodulin and phosphorylation by cAMP-kinase |
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Term
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Definition
Liver glycogen synthase defect
Decreased liver glycogen
Fasting hypoglycemia and post-fed hyperglycemia
Lactic acid accumulation with carb intake causes muscle cramps |
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Term
| GSD IV - Anderson disease |
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Definition
Branching enzyme defect
Accumulation of glycogen long outer chains and poor solubility
Presents in infancy with fail to thrive, early cirrhosis, lethal muscle disease |
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Term
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Definition
Liver phosphorylase defect
Presents early with growth retardation, hypoglycemia, hyperlipidemia, hyperketosis
Resolves with age |
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Term
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Definition
Fat substitute
Sucrose as base molecule instead of glycerol
Pancreatic lipase cannot hydrolyze the FA off
Not absorbed |
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Term
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Definition
| Acts as competitive inhibitor of pancreatic lipase |
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Term
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Definition
Signs: vomit, lethargy following fasting, hypoglycemia, low nlood ketone bodies, 20% comatose dueing first episode, elevated blood medium chain carnitine
Tx: IV glucose STAT, low fat diet, avoid fasting |
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Term
| Acetyl-CoA carboxylase regulation |
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Definition
Phosphorylation inactivates
Phosphorylated by AMP-activated kinase (stim by glucagon)
Dephosphorylated by protein phosphorylase 2A (stim by insulin)
Citrate is activator (overcomes phosphorylation)
Requires biotin |
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Term
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Definition
Defect in beta-glucosidase
Gluco-cerebroside accumulates
S/S: brusing, fatigue, anemia, low platelets, elarged liver/spleen, skeletal disorders, severe neurological complications |
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Term
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Definition
Defect in sphingomyelinase
Sphingomyelin accumulates
S/S: enlarged liver/spleen, reduced.appetite, abdominal distention, abdominal pain, low mm playelets
if severe death in tiddlerhood |
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Term
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Definition
Defect in hexoaminidase A
Ganglioside GM2 accumulates
S/S: progressive deterioration of nerve cells, mental and physical disabilities
Death by age 4 |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
| Estimates basal metabolic energy requirements based on gender, weight, height, and age |
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Term
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Definition
| (3.9 x VO2 + 1.1 x VCO2) x 1440 |
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Term
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Definition
enzyme localized in liver in ER
Acetyl-CoA + cholesterol -> CoA + cholesteryl
Cholesteryl used in bile salts |
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Term
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Definition
enzyme localized in peripheral tissues
forms cholesteryl from free cholesterol
cholesteryl used in HDL |
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Term
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Definition
fat-laden macrophage
eats up fatty deposits in blood vessel taking on foamy appearance
form fatty streaks of plaques |
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Term
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Definition
factor produced by endothelial cells of blood vessels
anti-platelet adhesion properties |
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Term
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Definition
expressed on endothelial cell membranes in blood vessels
anti-thrmobitic properties |
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Term
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Definition
produced by endothelial cells on blood vessel walls
activates plasminogen to break down clots |
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Term
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Definition
storedn in Weibel Palade bodies of endothelial cells of blood vessel walls
secreted upon damage to vessel wall
activated by binding to exposed collagen
activates platelets |
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Term
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Definition
| Arg, Val, His, Ile, Leu, Lys, Met, Phe, Thr, Trp |
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Term
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Definition
meat - all amino acids
cereal - deficient in Lys
legume - deficient in Met and Cys |
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Term
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Definition
present with: edema, ascites
adequate calories, inadequate protein
insulin high, fat stored, protein synthesized, lower plasma amino acids
visceral protein synthesis is reduced, susceptibility to infection and delayed development |
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Term
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Definition
present with: wasting, depigmentation, no edema
calorie malnutrition (stavation)
insulin falls, lypolysis provides FA, muscle amino acids mobilized, visceral protein synthesis increases |
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Term
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Definition
| iron, zinc, copper, iodine, selenium, chromium, manganese, molybdenum, cobalt, nickel |
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Term
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Definition
| used in hemoglobin for oxygen transport |
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Term
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Definition
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Term
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Definition
| used by enzymes in redox proteins |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| used in glucose tolerance factor |
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Term
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Definition
| used in glycosyl transferase |
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
part of retinal, retinol, and retinoic acid
fat soluble |
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Term
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Definition
calcium absorption in gut
fat soluble |
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Term
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Definition
gamma-glutamyl carboxylation of clotting factors and bone proteins
fat soluble |
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Term
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Definition
| B1, B3, riboflavin, vitamin C, pyridoxine, panthothenate, biotin |
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Term
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Definition
thiamine
ketoacid dehydrogenase coenzyme
water soluble |
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Term
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Definition
niacin
precursor for NAD+, dehydrogenase coenzyme
water soluble |
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Term
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Definition
precursor for FMN/FAD, dehydrogenase coenzyme
water soluble |
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Term
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Definition
ascorbate
cofactor for hydroxylation of collagen
water soluble |
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Term
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Definition
precursor for pyridoxal phosphate
cofactor for transaminases
water soluble |
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Term
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Definition
precursor for coenzyme A
involved in peripheral neuropathy
water soluble |
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Term
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Definition
cofactor for carboxylation reactions
water soluble |
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Term
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Definition
| Gly, Ser, Val, His, Arg, Cys, Pro, Ala, Gln, Asp, Asn, Met |
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Term
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Definition
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Term
| ketogenic and glucogenic amino acids |
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Definition
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Term
| Val, Ala, Gln, Asp, Leu, Ile |
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Definition
Val-glucogenic
Ala-glucogenic
Gln-glucogenic
Asp-glucogenic
Leu-ketogenic
Ile-ketogenic and glucogenic |
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Definition
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Definition
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Definition
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Term
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Definition
defect in phenylalanine hydroxylase
cannot tolerate phenylalanine in diet, urine contains phenyl derivatives, tyrosine is now an essential amino acid |
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Term
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Definition
blocked homogentisate oxidase activity
enzyme in the phenylalanine catabolic pathway
causes black diapers |
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Term
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Definition
lack of homogenistic oxidase enzyme
builds up homogentistic acid
cuases problems with connective tissue |
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Term
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Definition
| arthritits caused by deposition of homogentistic acid in the cartilage |
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Term
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Definition
cuase: blocked fumarylacetoacetate hydrolase activity (last enzyme in phenylalanine catabolic pathway)
consequences: liver and kidney failure, neurological problems
Tx: NTBC (blocks early enzyme in pathway, causes tyrosinemia II instead) |
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