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75 Cards in this Set

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what is the deficiency in fructose intolerance?
aldolase B
what accumulates in fructose intolerance, and what is the result?
fructose-1-phosphate accumulates, causing a decrease in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis
what are the symptoms of fructose intolerance?
hypoglycemia, jaundice, cirrhosis, vomiting
what is the treatment for fructose intolerance?
decrease intake of both fructose and sucrose (glucose + fructose)
what is the defect in essential fructosuria?
defect in fructokinase - benign, asymptomatic condition
what are the symptoms of essential fructosuria?
fructose appears in blood and urine
what is absent in galactosemia? what is the mode of inheritance?
absence of galactose-1-phosphate uridyltransferase; autosmal recessive
how is damage caused in galactosemia?
accumulation of toxic substances (including galactitol) rather than absence of an essential compound
what are the symptoms of galactosemia?
cataracts, hepatosplenomegaly, MR
what is the treatment for galactosemia?
exclude galactose and lactose (glucose + galactose) from diet
what does galactokinase deficiency cause?
galactosemia & galactosuria; galactitol accumulation if galactose is present in diet
what is decreased in PKU?
phenylaline hydroxlase or tetrahydrobiopterin cofactor
this disorder is characterized by excess pheylketones in urine (phenylacetate, phenyllactate, phenylpyruvate)
PKU
how is PKU inherited; what is the approximate incidence
autosomal-recessive; 1:10,000
what are the findings in PKU?
MR, growth retardation, fair skin, eczema, musty body odor
what is the treatment for PKU?
decrease phenylaline and increase tyrosine in diet
this is a congenital deficiency of homogenistic acid oxidase in the degradative pathway of tyrosine
alkaptonuria
what disease is characterized by urine that turns black on standing? what causes this?
alkaptonuria; alkapton bodies
connective tissue is also dark
although alkaptonuria is considered benign, it may be associated iwth this debilitating symptom
arthralgias
congenital deficiency of tyrosinase results in what?
albinism - inability to synthesize melanin from tyrosine
albinism may be caused by 2 deficiencies - what are they?
deficiency of tyrosinase
defective tyrosine transporters (decreased amounts of tyrosine and thus melanin)
what may be the cause of albinism?
lack of migration of neural crest cells
what becomes essential in homocystinuria?
cysteine
cystathionine synthesis deficiency is a form of what?
homocystinuria
what is the treatment for cystathionine deficiency?
decrease Met and increase Cys in diet
decreased affinity of cystathionine synthase for pyriodoxal phosphate is a form of what?
homocystinuria
what is the treament for decreased affinity of cystahionine synthase for pyriodoxal phosphate?
increase vitamin B6 in diet
what are potential symptoms of homocystinuria?
MR, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward), and atheroscleorsis (stroke and MI)
how common is cystinuria?
1:7000
what is cystinuria?
inherited defect of renal tubular AA transporter for cystine, ornithine, lysine, arginine (COLA)
how do you treat cystinuria?
acetazolamide to alkalinize urine
what is a potential complication of cystinuria?
cystine kidney stones
what is the defect in maple syrup urine disease?
blocked degradation of branched amino acids due to decreased alpha-ketoacid dehydrogenase
what are the branched AA's?
Ile, Val, Leu (I Love Vermont)
what happens in maple syrup urine disease?
increased alpha-ketoacids in the blood, especially Leu -- causes severe CNS defects, MR, and death
a deficiency in what enzyme can cause SCID?
adenosine deaminase
what was the first disease to be treated by experimental gene therapy?
adenosine deaminase deficiency
what is absent in Lesch-Nyan syndrome?
HGPRTase, which converts hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP)
how is Lesch-Nyan inherited
X-linked recessive
retardation, self-mutilation, aggression, hyperuricemia, gout, and choreoathetosis are findings in what syndrome?
Lesch-Nyan
this syndrome is marked by a purine salvage problem
Lesch-Nyan
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
adenosine deaminase deficiency
what gycogen storage disease is due to a deficiency in glucose-6-phosphatase? what type is it?
Von Gierke's; type I
severe fasting hypoglycemia, marked increase of glycogen in liver, hepatomegaly, and increased blood lactate are characteristic of what glycogen storage disease?
Von Gierke's
what is the deficiency in Pompe's disease? what type is it?
lysosomal alpha-1,4 glucosidase deficiency; type II
what glycogen storage disease is marked by cardiomegaly and systemic findings, leading to early cardiac death?
Pompe's - Pompe's trashes the Pump (heart, liver, and muscle)
what is the deficiency in Cori's disease?
debranching enzyme alpha-1,6-glucosidase; type III
this glycogen storage disease is a milder form of type I with normal blood lactate levels
Cori's disease; type III
what is the deficiency in McArdle's disease?
skeletal muscle glycogen phosphorylase; type V
painful cramps and myoglobinuria during exercise are characteristic of what glycogen storage disease?
McArdle's
what is the deficient enzyme in Fabry's disease, and what substate is accumulated?
alpha-galactosidase A; ceramide trihexoside (fAbry)
Fabry's disease and Hunter's syndrome are inherited in what manner?
X-linked recessive (Fabry the Hunter aims for the X)
peripheral neuropathy of the hands and feet, angiokeratomas, CV/renal disease are characteristic of what lysosomal storage disease?
Fabry's disease
hepatosplenomegaly, aseptic necrosis of femur, bone crises are characteristic of what lysosomal storage disease?
Gaucher's (AR)
what is the deficient enzyme in Gaucher's disease? what substrate accumulates?
beta-glucocerebrosidase; glucocerebroside
what is the deficient enzyme in Niemann-Pick disease? what subtrate accumulates?
sphingomyelinase; sphingomyelin (AR) (no man picks his nose with his sphinger)
progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula are characteristic of what lysosomal storage disease?
Niemann-Pick
hexosaminidase A is deficient and GM2 ganglioside accumulates in what lysosomal storage disease?
Tay-Sachs (Tay SaX lacks heXosaminidase)
this lysosomal storage disease is characterized by progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
Tay-Sachs
what enzyme is deficient in Krabbe's disease? what accumulates?
beta-galctosidase; galactocerebroside
name 3 characteristics of Krabbe's disease
peripheral neuropathy, developmental delay, optic atrophy
this lysosomal storage disease is marked by central and peripheral demyelination with ataxia, dementia
metachromatic leukodystrophy
in this lysosomal storage disease, arylsulfatse A is deficient and cerebroside sulfate accumulates
metachromatic leukodystrophy
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly are characteristic of what lysosomal storage disease?
Hurler's syndrome
alpha-L-iduronidase is deficient and heparan sulfate, dermatan sulfate accumulate in which lysosomal storage disease?
Hurler's syndrome (alpha-L-iduronidase - HurLer's)
the symptoms of this lysosomal storage disease are similar to Hurler's, but there is aggressive behavior and no corneal clouding
Hunter's (you have to see and be aggressive if you are a hunter)
in what syndrome is there a deficiency of iduronate sulfatase and accumulation of heparan sulfate/dermatan sulfate?
Hunter's (X-linked recessive)
what do the defectve LDL receptors in familial hypercholesterolemia recognize?
apo-B 100 protein (cotransported with cholesterol esters in LDL)
what pathway is altered in achondroplasia?
cell signaling (FGFR3)
what condition clinically resembles pellagra?
Hartnup's disease (diarrhea, dementia, dermatitis)
what is the underlying defect in Hartnup's disease?
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
normal child at birth who begins to suffer from diminished responsiveness, deafness, blindness, loss of neuro function, seizures?
Tay-Sachs - death by 4/5
a defect in what enzyme would yield chylomicrons in plasma?
lipoprotein lipase
severe memory deficit with confabulation in an alcoholic?
thiamine deficiency
type of gall stones in patient with sickle cell?
calcium bilirubinate