Biochemistry - Clinical

Front 1

what is the deficiency in fructose intolerance?

Back 1

aldolase B

Front 2

what accumulates in fructose intolerance, and what is the result?

Back 2

fructose-1-phosphate accumulates, causing a decrease in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis

Front 3

what are the symptoms of fructose intolerance?

Back 3

hypoglycemia, jaundice, cirrhosis, vomiting

Front 4

what is the treatment for fructose intolerance?

Back 4

decrease intake of both fructose and sucrose (glucose + fructose)

Front 5

what is the defect in essential fructosuria?

Back 5

defect in fructokinase - benign, asymptomatic condition

Front 6

what are the symptoms of essential fructosuria?

Back 6

fructose appears in blood and urine

Front 7

what is absent in galactosemia? what is the mode of inheritance?

Back 7

absence of galactose-1-phosphate uridyltransferase; autosmal recessive

Front 8

how is damage caused in galactosemia?

Back 8

accumulation of toxic substances (including galactitol) rather than absence of an essential compound

Front 9

what are the symptoms of galactosemia?

Back 9

cataracts, hepatosplenomegaly, MR

Front 10

what is the treatment for galactosemia?

Back 10

exclude galactose and lactose (glucose + galactose) from diet

Front 11

what does galactokinase deficiency cause?

Back 11

galactosemia & galactosuria; galactitol accumulation if galactose is present in diet

Front 12

what is decreased in PKU?

Back 12

phenylaline hydroxlase or tetrahydrobiopterin cofactor

Front 13

this disorder is characterized by excess pheylketones in urine (phenylacetate, phenyllactate, phenylpyruvate)

Back 13

PKU

Front 14

how is PKU inherited; what is the approximate incidence

Back 14

autosomal-recessive; 1:10,000

Front 15

what are the findings in PKU?

Back 15

MR, growth retardation, fair skin, eczema, musty body odor

Front 16

what is the treatment for PKU?

Back 16

decrease phenylaline and increase tyrosine in diet

Front 17

this is a congenital deficiency of homogenistic acid oxidase in the degradative pathway of tyrosine

Back 17

alkaptonuria

Front 18

what disease is characterized by urine that turns black on standing? what causes this?

Back 18

alkaptonuria; alkapton bodies
connective tissue is also dark

Front 19

although alkaptonuria is considered benign, it may be associated iwth this debilitating symptom

Back 19

arthralgias

Front 20

congenital deficiency of tyrosinase results in what?

Back 20

albinism - inability to synthesize melanin from tyrosine

Front 21

albinism may be caused by 2 deficiencies - what are they?

Back 21

deficiency of tyrosinase
defective tyrosine transporters (decreased amounts of tyrosine and thus melanin)

Front 22

what may be the cause of albinism?

Back 22

lack of migration of neural crest cells

Front 23

what becomes essential in homocystinuria?

Back 23

cysteine

Front 24

cystathionine synthesis deficiency is a form of what?

Back 24

homocystinuria

Front 25

what is the treatment for cystathionine deficiency?

Back 25

decrease Met and increase Cys in diet

Front 26

decreased affinity of cystathionine synthase for pyriodoxal phosphate is a form of what?

Back 26

homocystinuria

Front 27

what is the treament for decreased affinity of cystahionine synthase for pyriodoxal phosphate?

Back 27

increase vitamin B6 in diet

Front 28

what are potential symptoms of homocystinuria?

Back 28

MR, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward), and atheroscleorsis (stroke and MI)

Front 29

how common is cystinuria?

Back 29

1:7000

Front 30

what is cystinuria?

Back 30

inherited defect of renal tubular AA transporter for cystine, ornithine, lysine, arginine (COLA)

Front 31

how do you treat cystinuria?

Back 31

acetazolamide to alkalinize urine

Front 32

what is a potential complication of cystinuria?

Back 32

cystine kidney stones

Front 33

what is the defect in maple syrup urine disease?

Back 33

blocked degradation of branched amino acids due to decreased alpha-ketoacid dehydrogenase

Front 34

what are the branched AA's?

Back 34

Ile, Val, Leu (I Love Vermont)

Front 35

what happens in maple syrup urine disease?

Back 35

increased alpha-ketoacids in the blood, especially Leu -- causes severe CNS defects, MR, and death

Front 36

a deficiency in what enzyme can cause SCID?

Back 36

adenosine deaminase

Front 37

what was the first disease to be treated by experimental gene therapy?

Back 37

adenosine deaminase deficiency

Front 38

what is absent in Lesch-Nyan syndrome?

Back 38

HGPRTase, which converts hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP)

Front 39

how is Lesch-Nyan inherited

Back 39

X-linked recessive

Front 40

retardation, self-mutilation, aggression, hyperuricemia, gout, and choreoathetosis are findings in what syndrome?

Back 40

Lesch-Nyan

Front 41

this syndrome is marked by a purine salvage problem

Back 41

Lesch-Nyan

Front 42

in this syndrome, excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase, which prevents DNA synthesis and thus decreases lymphocyte count

Back 42

adenosine deaminase deficiency

Front 43

what gycogen storage disease is due to a deficiency in glucose-6-phosphatase? what type is it?

Back 43

Von Gierke's; type I

Front 44

severe fasting hypoglycemia, marked increase of glycogen in liver, hepatomegaly, and increased blood lactate are characteristic of what glycogen storage disease?

Back 44

Von Gierke's

Front 45

what is the deficiency in Pompe's disease? what type is it?

Back 45

lysosomal alpha-1,4 glucosidase deficiency; type II

Front 46

what glycogen storage disease is marked by cardiomegaly and systemic findings, leading to early cardiac death?

Back 46

Pompe's - Pompe's trashes the Pump (heart, liver, and muscle)

Front 47

what is the deficiency in Cori's disease?

Back 47

debranching enzyme alpha-1,6-glucosidase; type III

Front 48

this glycogen storage disease is a milder form of type I with normal blood lactate levels

Back 48

Cori's disease; type III

Front 49

what is the deficiency in McArdle's disease?

Back 49

skeletal muscle glycogen phosphorylase; type V

Front 50

painful cramps and myoglobinuria during exercise are characteristic of what glycogen storage disease?

Back 50

McArdle's

Front 51

what is the deficient enzyme in Fabry's disease, and what substate is accumulated?

Back 51

alpha-galactosidase A; ceramide trihexoside (fAbry)

Front 52

Fabry's disease and Hunter's syndrome are inherited in what manner?

Back 52

X-linked recessive (Fabry the Hunter aims for the X)

Front 53

peripheral neuropathy of the hands and feet, angiokeratomas, CV/renal disease are characteristic of what lysosomal storage disease?

Back 53

Fabry's disease

Front 54

hepatosplenomegaly, aseptic necrosis of femur, bone crises are characteristic of what lysosomal storage disease?

Back 54

Gaucher's (AR)

Front 55

what is the deficient enzyme in Gaucher's disease? what substrate accumulates?

Back 55

beta-glucocerebrosidase; glucocerebroside

Front 56

what is the deficient enzyme in Niemann-Pick disease? what subtrate accumulates?

Back 56

sphingomyelinase; sphingomyelin (AR) (no man picks his nose with his sphinger)

Front 57

progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula are characteristic of what lysosomal storage disease?

Back 57

Niemann-Pick

Front 58

hexosaminidase A is deficient and GM2 ganglioside accumulates in what lysosomal storage disease?

Back 58

Tay-Sachs (Tay SaX lacks heXosaminidase)

Front 59

this lysosomal storage disease is characterized by progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin

Back 59

Tay-Sachs

Front 60

what enzyme is deficient in Krabbe's disease? what accumulates?

Back 60

beta-galctosidase; galactocerebroside

Front 61

name 3 characteristics of Krabbe's disease

Back 61

peripheral neuropathy, developmental delay, optic atrophy

Front 62

this lysosomal storage disease is marked by central and peripheral demyelination with ataxia, dementia

Back 62

metachromatic leukodystrophy

Front 63

in this lysosomal storage disease, arylsulfatse A is deficient and cerebroside sulfate accumulates

Back 63

metachromatic leukodystrophy

Front 64

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly are characteristic of what lysosomal storage disease?

Back 64

Hurler's syndrome

Front 65

alpha-L-iduronidase is deficient and heparan sulfate, dermatan sulfate accumulate in which lysosomal storage disease?

Back 65

Hurler's syndrome (alpha-L-iduronidase - HurLer's)

Front 66

the symptoms of this lysosomal storage disease are similar to Hurler's, but there is aggressive behavior and no corneal clouding

Back 66

Hunter's (you have to see and be aggressive if you are a hunter)

Front 67

in what syndrome is there a deficiency of iduronate sulfatase and accumulation of heparan sulfate/dermatan sulfate?

Back 67

Hunter's (X-linked recessive)

Front 68

what do the defectve LDL receptors in familial hypercholesterolemia recognize?

Back 68

apo-B 100 protein (cotransported with cholesterol esters in LDL)

Front 69

what pathway is altered in achondroplasia?

Back 69

cell signaling (FGFR3)

Front 70

what condition clinically resembles pellagra?

Back 70

Hartnup's disease (diarrhea, dementia, dermatitis)

Front 71

what is the underlying defect in Hartnup's disease?

Back 71

defect in epithelial transport of neutral AA's, including tryptophan, which can act as a precursor of niacin - poor dietary absorption of AA's & excess AA secretion into urine

Front 72

normal child at birth who begins to suffer from diminished responsiveness, deafness, blindness, loss of neuro function, seizures?

Back 72

Tay-Sachs - death by 4/5

Front 73

a defect in what enzyme would yield chylomicrons in plasma?

Back 73

lipoprotein lipase

Front 74

severe memory deficit with confabulation in an alcoholic?

Back 74

thiamine deficiency

Front 75

type of gall stones in patient with sickle cell?

Back 75

calcium bilirubinate