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35 Cards in this Set
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- 3rd side (hint)
glycogen storage diseases
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all result in abnormal glycogen metabolism and accumulation of glycogen within cells
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Von Gierke;s disease (type I)
deficient enzyme: findings: |
deficient enzyme: glucose 6-phosphatase (converts glucose 6 phosphate to glucose)
findings: severe hypoglycemia, increase glycogen in liver and kidneys. lactic acidosis, hepatomegaly, renomegaly - increased cholesterol, TGs, and uric acid |
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Pompe's disease (type II)
deficient enzyme: findings: |
deficient enzyme: lysosomal alpha-1,4 glucosidase (acid maltase)
findings: cardiomegaly |
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Cori's disease (type III)
deficient enzyme: findings: |
deficient enzyme: alpha 1,6 glucosidase (debranching enzyme)
findings: milder form of type I with normal lactate levels |
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mcardle's disease
deficient enzyme: findings: |
deficient enzyme: skeletal muscle glycogen phosphorylase
findings: can't break down glycogen in muscle, painful muscle cramps, myoglobinuria with strenous exercise |
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lysosomal storage diseases
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deficiency in lysosomal enzymes which results in accumulation of abnormal metabolic products
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FAbry's disease
deficient enzyme: accumulated substrate: |
deficient enzyme: Alpha galactosidase A
accumulated substrate: ceramide trihexoside peripheral neuropathy of hands/feet, angiokeratomas, cardio & renal disease |
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Gaucher's disease
deficient enzyme: accumulated substrate: |
deficient enzyme: beta- glucerebrosidase
accumulated substrate: glucocerebroside hepatosplenomegaly, aseptic necrosis of femur, Gaucher's cells (macrophages that look like crimpled tissue paper |
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Niemann-Pick disease
deficient enzyme: accumulated substrate: |
deficient enzyme: sphingomyelinase
accumulated substrate: sphingomyelin neurodegeneration, hepatosplenomegaly, cherry red spot on macula |
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Tay-Sachs disease
deficient enzyme: accumulated substrate: |
deficient enzyme: hexosaminidase A
accumulated substrate: GM2 ganglioside neurodegeneration, developmental delay, cherry spot on macula, lysosomes with onion skin |
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Krabbe's disease
deficient enzyme: accumulated substrate: |
deficient enzyme: galactocerebrosidase
accumulated substrate: galactocerebroside peripheral neuropathy, optic atrophy, globoid cells |
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metachromic leukodystrophy
deficient enzyme: accumulated substrate: |
deficient enzyme:arylsulfatase A
accumulated substrate: cerebroside sulfate central and peripheral demyelination with ataxia & dementia |
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Hurler's syndrome
deficient enzyme: accumulated substrate: |
deficient enzyme: alpha-L-iduronidase
accumulated substrate: heparan sulfate, dermatan sulfate developmental delay, gargoylism, airway obstruction, corneal clouding |
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Hunter's syndrome
deficient enzyme: accumulated substrate: |
deficient enzyme: iduronate sulfatase
accumulated substrate: heparan sulfate, dermatan sulfate milder form of Hurler's |
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pyruvate kinase deficiency
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associated with hemolytic anemia
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pyruvate dehyrogenase deficiency
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- pyruvate dehydrogenase converts pyruvate to acetyl CoA
- backup of pyruvate & alanine results in lactic acidosis - neurological defects - tx: increase ketogenic nutrients (lysine, leucine) |
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G6PD deficiency
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- glucose-6-phosphaet dehydrogenase needed to keep glutathione reduced which in turn detoxifies free radical and peroxides
- leads to hemolytic anemia - heinz bodies/ bite cells |
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fructose intolerance
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- deficiency in aldolase B
- fructose-1-phosphate accumulates causing a decrease in available phosphate and inhibition of glycogenolysis and gluconeogenesis - hypoglycemia, jaundice, cirrhosis |
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essential fructosuria
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-deficiency in fructokinase
- benign condition - fructose in urine |
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classic galactosemia
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- absence of galactose-1-phosphate uridlytransferase (converts galactose to glucose)
- galactose accumulates causing infantile cataracts, hepatomegaly, failure to thrive, mental retardation -exclude galactose & glucose from diet |
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galactokinase deficiency
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- deficiency in galactokinase
- galacticol accumulates and appears in blood/urine. - infatile cataracts, more mild than the other condition |
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OTC deficiency
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- no ornithine transcarbamoylase
-interferes with body's ability to eliminate ammonia -excess carbamoyl phosphate is converted to orotic acid which accumulates in blood/urine - decreased BUN, hyperammonemia |
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PKU=phenylketonuria
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- decreased phenylalanine hydroxylase (converts phenylalanine to tyrosine)
-tyrosine becomes essential -increased phenylalanine leads to phenyketones in urine - musty body odor, retardation, fair skin |
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alkaptonuria
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- deficiency of homogentisic acid oxidase
- benign condition - urine turns black on standing - may have really bad arthralgias |
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albinism
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- deficiency of tyrosinase OR defectice tyrosine transporters
- low tyrosine meanse low melanin |
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homocystinuria
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- deficiency in cystathione synthase (converts homocysteine to cytsathione which then becomes cysteine)
- OR defect in homocysteine methyltransferase - retardation, homocysteine in urine, tall stature, kyphosis, lens subluxation -excess homocysteine in urine |
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maple syrup urine disease
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- decrease alpha-ketoacid dehydrogenase
-blocked degradtion of branched amino acids (isoleucine, valine, leucine) - increased alpha ketoacids in the blood |
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adenosine deaminase deficiency (purine salvage deficiency)
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- no adenosine deaminase
- prevents DNA synthesis of lymphocytes - cause SCID (severe conbined immunodeficiency disease) - bubble boy |
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Lesch-Nyhan syndrome
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- absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT)
- excess uric acid production - retardation, self mutilation, aggression, hyperuricemia. gout |
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orotic aciduria
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- defect in either orotic acid phosphoribosyltransferase OR orotidine 5'-phosphate decarboxylase
- inabilty to convert orotic acid to UM - increased orotic acid in urine, megalobalstic anemia that does not improve w/ tx, NO HYPERAMMONEMIA (so don't confuse with OTC def) - tx: oral uridine |
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porphyrias
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a set of related conditions in which specific enzymes needed in heme synthesis are defective and proximal intermediates accumulated
Sx: painful abdomen, pink urine, polyneuropathy, psych issues, precipitated by drugs |
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lead poisoning
affected enzyme: accumulated substrate in urine: |
affected enzyme: ferrochelatase & ALA dehydratase
accumulated substrate in urine: coproporphyrin & ALA |
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acute intermittent porphyria
affected enzyme: accumulated substrate in urine: |
affected enzyme: uroporphyrinogen I synthase
accumulated substrate in urine: porphobilinogen & delta ALA |
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porphyria cutanea tarda
affected enzyme: accumulated substrate in urine: |
affected enzyme: uroporphyrinogen decarboxylase
accumulated substrate in urine: uroporphyrin |
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I cell disease
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- inherited lysosomal storage disorder
- failure of addition mannose-6-phosphate to lysosome proteins. adding mannose-6-phosphate is what tells the protein to go to the lysosome. -enzymes are secreted outside the cell -coarse facial features, restricted joint movement, high plasma levels of lysosomal enzymes** |
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