Term
| A patient was given an antibiotic and had a severe reaction. Heinz bodies were found in the erythrocytse and this has led to heinz body anemia, a hemolytic crisis. This same reaction was seen in a patient after he ate faba beans. waht is the possible disorder and why is it happening? |
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Definition
This is probably favism, (X-linked recessive) which is a deficiency in 6PDH, which is necessary for the pentose phosphate pathway. This pathway is necessary for the production of NADPH and ribose. although deficiency in this enzyme alters the pentose phosphate pathway, for most cellular processes there are other ways to produce NADPh. However, for erythrocytes this is the only way NADPh can be produced, so iwthout this enzyme it leads to oxidative damage
Remember that Favism is associated with teh 4 As:
analgetics, antipyretics, antimarials, and antibiotics |
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Term
| Patient presents with osmotic swelling of eye lens which is leading to cataract.Lab tests show high levels of galactitol and galactonate. What can be causing the cataract formation? |
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Definition
| This can be due to galactosemia. Where one of the key enzymes for converting galactose to glucose is missing (Gal-1P transferase, gal kinase, udp gal 4 epimerase). thus galactose is either oxidized to the acid or reduced to the sugar alcohol. This causes an increased osmotic pressure in all cells but specifically the eye. |
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Term
| Fucotosaldolase (aldolase B deficiency) results in? |
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Definition
hereditary fructose intolerance. can lead to severe hypoglycemia and liver damage.
Treatment = sucrose or fructose free diet |
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Term
| Glycogen storage disease 0a |
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Definition
GS1, glycogen synthase 1
Defect in liver
Hypoglycemia
high blood ketone levels
hyperglycemia after meals |
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Term
| Glycogen storage disease 0b |
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Definition
GYS 2 glycogen synthase
Defect in muscle
cardiomyopathy and exercise intolerance |
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Term
| Patient presents with severe hypoglycemia after only 2-4 hours of fasting. Over time patient presents with severe hepatomegaly |
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Definition
Von Gierke
Glucose 6 phosphatase is the necessary enzyme to convert glucose 6 phosphate to glucose. This enzyme is found in the ER so glucose 6 phosphate is transported into the ER, where the rxn happens and then glucose is shuttled out. So something is either wrong wtih teh enzyme or the transport system out or in the ER.
1a- defect in
lumen of ER
1b- defect in transport system
treatment: corn starch |
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Term
| An infant death is the result of severe cardiomegaly, what glycogen storage disease could this have resulted from? |
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Definition
| Pompe II: acid maltase/glucosidase deficiecy affects all muscles and heart |
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Term
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Definition
Deficiency is the glycogen debranching enzyme
results in defects to muscle and liver.
hepatomegaly, hypoglycemia, growth retardation, progressive skeletal myuopathy, cardiomypopathy adn fasting hypoglycemia |
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Term
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Definition
Deficiency is the glycogen debranching enzyme
results in defects to liver |
|
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Term
| Defect in glycogen branching enzyme |
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Definition
Anderson IV
branching enzyme assists glycogen synthase in producing glycogen
= long unbranched insoluble glycogen that precipitates in liver
Death by age 5 due to hepatomegaly and liver cirrhosis. |
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Term
| Patient, a young adult, presents with exercise intolerance and muscle cramps. what glycogen storage disease could cause this? |
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Definition
McArdle V
Deficiency is glycogen phosphorylase
Muscle cannot braek down glycogen |
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Term
|
Definition
Deficiency of glycogen phosphorylase in LIVER
growth retardation, mild hepatomegaly,
Good prognosis |
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Term
| Patient presents with exercize intolerance , gout, and glucose intolerance |
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Definition
Tarui VII
defect in muscle phophofructokinase |
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Term
| The only X linked glycogen storage disease |
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Definition
VIII
defect in hepatic phosphorlase kinase
treatment: dextrothyroxine (DT4) |
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Term
| The only X linked glycogen storage disease |
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Definition
VIII
defect in hepatic phosphorlase kinase
treatment: dextrothyroxine (DT4) |
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Term
| The only X linked glycogen storage disease |
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Definition
VIII
defect in hepatic phosphorlase kinase
treatment: dextrothyroxine (DT4) |
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Term
Patient presents with growth failure, rickets, osteoporosis, dwarfism, mooon shaped face, fat deposits on shoulders and abdomen, fracture, and pancreatitis.
Incerase in urine glucose, aa, phophate protein and uric acid = metabolic acidosis what coul be the problem> |
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Definition
Franconi-bickel XI
Defect glucose transporter GLUT 2
Treatment: antiketogenic diet, water, electrolyte and vitamin D supplementation |
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Term
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Definition
X linked
increase uric acid production
destroys dopaminergic nerve cells and terminals |
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Term
| Kelley Seegmiller syndrome |
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Definition
HPRT activity
more than 8%
hyperuiricemia,
kidney distruction
no neurological defects (most mild) |
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Term
| Variant Lesch- Nyhan syndrome |
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Definition
HPRT
intermediate levels of activity
clumbsiness to motor dysfunctin |
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Term
|
Definition
HPRT less than 1.5 % activity
mental retardation
uric acid problems
self destructrive biting |
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Term
| management for HPRT (hypoxanthine guanine phosphoribsyl transferase) probs |
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Definition
| allopurinol, allthough this prevents uricemic damage it has no effect on neurological functions |
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Term
| Allopurinol would work best against? |
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Definition
| kelley seemiller syndrome since with thsi diseases there is still more than 8% acitivity of HPRT and no neurological problems. Allopurinol does not work for neuro problems so it would not be helpful for the neuro probs associated with lesch nyhan. It could help for variant LNS |
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Term
| concerning enzyme replacement therapy for lysosomal storage diseases, what transporter is used to transport enzymes to lysosome? |
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Definition
| mannose 6-phosphate transporter |
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Term
| What is the difference between hunter adn hurler/schie disease |
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Definition
| In hurlers there is corneal clouding but not behavior problems while in hunters there is no corneal clouding but observed behavioral problems |
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