Final Review Flashcards
Specialized products of tyrosine, phenylalanine
Epinephrine. Norepinephrine. Melanin. Dopamine. Thyroid hormones.
Specialized product of tryptophan
Serotonin, melatonin, nad, NADP
Specialized product of Arginine
Nitric oxide, creatinine
Specialized products of histidine
Histamine
Specialized product of glutamic acid
GABA, glutathione
Specialized product of glycine
Heme and glutathione
Cofactors methylmalonyl coa mutase
B12
Cofactors transaminase
PLP
Cofactors hydroxylase
BH4
Cofactors methionine synthase
B12
Cofactor cytochrome c oxidase
Copper
Cofactors superoxide dismutase
Copper
Cofactor Lysyl oxidase
Copper
Cofactors tyrosinase
Copper
Cofactor dopamine beta hydroxylase
Copper, vit c
Cofactor ceruloplasmin
Copper
Cause menke’s
Low copper, x linked
Cause Wilson’s
High copper, deficient ceruloplasmin
Causes microcytic anemia
Low copper, low PLP, low iron,
Iron absorption
Heme from meat. Ferric iron from green leafy veggies. Must be converted to ferrous iron in intestine (ceruloplasmin has feroxidase activity)
Where is iron stored?
Reticulocytes and liver
What form is iron stored in?
Ferritin/hemodexerin
Symptoms of hereditary hemochromatosis
Accumulation of stored iron.
Bronze skin, diabetes, heart dysfunction, liver damage
Use of zinc
Oxidases
Result of zinc deficiency
Acrodermititis enteropathica
Iodine used in….
Thyroid hormone
Deficiency of iodine leads to….
Goiter
What needs selenium?
Glutathione peroxidase
What needs manganese?
Pyruvate Carboxylase!
What needs magnesium?
Enzymes using ATP
Tay Sachs
Beta hexamidase a GM2(ganglioside) onion inclusions.. cherry red spot macula densa Deadsies
Niemann pick
Sphingomyelinase, sphingomyelin, foamy cell. Type A is fatal by 2-3y Type B causes HS megaly.
Fabry
Alpha galatosidase , globosides, bathing trunk rash, peripheral neuropathy.
Gaucher
Beta glucosidase, glucosyl ceremide, HS megaly, osteoporosis, NO NEUROPATHY
Metachromatic leukodystrophy
Aryl sulfatase A, sulfatides, progressive paralysis and demyelination.
I cell disease
Inability to phosphorylate mannose, poor targeting, sphingomyelin and GAGs, Looks like hurlers.
Hunter’s
Idonurate sulfatase, heparan/dermatan sulfate, NO Cataracts
Hurlers
L alpha idonurase, HS/ds, cataracts
Pompe disease
Acid Maltase, glycogen, cardiomyopathy, liver and muscle damage
Albumin
Made in liver, low causes edema
Alpha fetoprotein
Alpha one
High in adults liver, testicular, or ovarian cancer
High in amnio, neural tube defect
Low in amnio, Down syndrome.
Alpha one antitrypsin
Inhibits neutrophil elastase marker for emphysema
Transcortin
Alpha one
Transports cortisol
Retinol binding protein
Alpha one , transports Retinol (vitamin a)
Alpha 2 macroglobulin
Alpha two
Huge and not normally secreted in urine, marker for glomerular damage (nephrosis)
Ceruloplasmin
Alpha two
Transports copper. Marker for Wilson’s disease if low. Also has feroxidase activity in intestines
haptoglobulin
Alpha two
Binds hb in serum. Low haptoglobulin indicates hemolysis
Beta LDL
Cholesterol transport to peripheral tissues and liver. Contains apo b100.
Hemopexin
Beta
Saves heme iron!
Prevents it’s excretion
Transferrin
Transports iron in blood
Immunoglobulins
Gamma
One elevated in multiple myeloma
All in liver cirrhosis