Metabolism IV Flashcards

1
Q

von gierke disease

A

glycogen storage disease - type I

deficient glucose 6 phosphatase

cannot break down glycogen
-severe fasting hypoglycemia

high glycogen in liver, high blood lactate, high TGs, high uric acid, hepatomegaly

auto recessive

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2
Q

tx von gierke

A

frequent oral glucose and cornstarch

avoid fructose and galactose

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3
Q

pompe disease

A

glycogen storage disease - type II

deficient lysosomal a-1,4 glucosidase

cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death

auto recessive

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4
Q

cori disease

A

glycogen storage disease - type III

debranching enzyme - a-1,6 glucosidase deficiency

fasting hypoglycemia, high glycogen liver, hepatomegaly, normal blood lactate levels

auto recessive

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5
Q

glycogen storage disease

A

all auto recessive

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6
Q

mcardle disease

A

type IV glycogen storage disease

deficient skeletal muscle glycogen phosphorylase
-no breakdown of glycogen in muscle

painful muscle cramp, myoglobinuria with strenuous exercise, arrhythmias, electrolyte abnormalitites

autosomal recessive

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7
Q

tx of mcardle disease

A

vit B6 - cofactor glycogen phosphorylase

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8
Q

fabry disease

A

deficient a-galactosidase A

accumulation of ceramide trihexoside

X-linked recessive
-lysosomal storage disease

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9
Q

deficient glucocerebrosidase

A

gaucher disease

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10
Q

gaucher disease

A

MC lysosomal storate disease

deficient glucocerebrosidase
-accumulation of glucocerebroside

auto recessive

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11
Q

deficient sphingomyelinase

A

nieman pick disease

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12
Q

nieman pick disease

A

deficient sphingomyelinase

accumulation of sphingomyelin

lysosomal storage disease - auto recessive

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13
Q

hepatosplenomegaly, foam cells, cherry red spot on macula, neurodegeneration

A

nieman pick

deficient sphingomyelin

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14
Q

tay sachs disease

A

deficient hexosaminidase A

accumulation of GM2 ganglionside

lysosomal storage disease - auto recessive

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15
Q

cherry red spot on macula, no hepatosplenomegaly, lysosomes with onion skin, neurodegeneration

A

tay sachs disease

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16
Q

deficient hexosaminidase A

A

tay sachs disease

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17
Q

deficient galactocerebrosidase

A

krabbe disease

accumulation of galactocerebroside and psychosine

18
Q

krabbe disease

A

deficient galactocerebroside

accumulation of galactocerebroside and psychosine

lysosomal storage disease, autosomal recessive

19
Q

deficient arylsulfatase A

A

metachromatic leukodystrophy

20
Q

metachromatic leukodystrophy

A

deficient arylsulfatase A
-accumulation of cerebroside sulfate

lysosomal storage disease - auto recessive

21
Q

hurler syndorme

A
gargoylism
develop delay
airway obstruction
hepatosplenomegaly
corneal clouding

deficient a-L iduronidase

accumulation of heparan sulfate and dermatan sulfate

auto recessive - lysosomal storage disease - mucopolysaccharidoses

22
Q

hunter syndrome

A

gargoylism, aggressive behavior
develop delay
no corneal clouding

deficient iduronate sulfatase

acuumulation of heparan sulfate and dermatan sulfate

X-linked recessive - lysosomal storage disease
mucopolysaccharidoses

23
Q

ashkenazi jew

A

tay sachs
niemann pick
gaucher disease

24
Q

citrate

A

for fatty acid synthesis

transferred from mitochondrial matrix to cytoplasm

25
carnitine shuttle
for breakdown of fatty acids shuttle long chain fatty acid to from cytoplasm to the mitochondrial matrix
26
carnitine deficiency
defect transport long chain FAs - into mitochondria toxic accumulation - weakness, hypotonia, hypoketotic, hypoglycemia
27
medium chain acyl-CoA DH deficiency
auto rec cannot breakdown FAs to acetyl CoA -accumulation 8-10 carbon fatty acyl carnitines hypoketotic hypoglycemia infant - vomit, lethargy, seizure, coma, liver dysfxn tx - avoid fasting
28
ketone bodies
acetoacetate | B-hydroxybutyrate
29
urine test for ketones
measure acetoacetate only not B-hydroxybutyrate
30
prolonged starvation
OAA depleted for gluconeogenesis buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies
31
diabetic ketoacidosis
OAA depleted for gluconeogenesis buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies
32
alcoholism
excess NADH - shunt OAA to malat buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies
33
1 gram of protein
4 kcal energy
34
1 gram of carbohydrate
4 kcal energy
35
1 gram of fat
9 kcal energy
36
1 gram of alcohol
7 kcal energy
37
glycogen reserves
depleted after 1 day
38
fasting - between meals
hepatic glycogenolysis -major | hepatic gluconeogenesis, adipose release of FFA - minor
39
starvation - 1-3 days
blood glucose - hepatic glycogenolysis, adipose release FFAs - muscle and liver - use FFA
40
hepatic gluconeogenesis
from lactate, alanine and adipose tissue glycerl and prpionyl CoA from odd-chain FFA -only TG component for gluconeogenesis
41
starvation after 3 days
ketone bodies -main energy for brain after depleted - protein degradation occurs - organ failure and death
42
RBCs
cannot utilize ketones