Metabolism IV Flashcards
von gierke disease
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
tx von gierke
frequent oral glucose and cornstarch
avoid fructose and galactose
pompe disease
glycogen storage disease - type II
deficient lysosomal a-1,4 glucosidase
cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death
auto recessive
cori disease
glycogen storage disease - type III
debranching enzyme - a-1,6 glucosidase deficiency
fasting hypoglycemia, high glycogen liver, hepatomegaly, normal blood lactate levels
auto recessive
glycogen storage disease
all auto recessive
mcardle disease
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
tx of mcardle disease
vit B6 - cofactor glycogen phosphorylase
fabry disease
deficient a-galactosidase A
accumulation of ceramide trihexoside
X-linked recessive
-lysosomal storage disease
deficient glucocerebrosidase
gaucher disease
gaucher disease
MC lysosomal storate disease
deficient glucocerebrosidase
-accumulation of glucocerebroside
auto recessive
deficient sphingomyelinase
nieman pick disease
nieman pick disease
deficient sphingomyelinase
accumulation of sphingomyelin
lysosomal storage disease - auto recessive
hepatosplenomegaly, foam cells, cherry red spot on macula, neurodegeneration
nieman pick
deficient sphingomyelin
tay sachs disease
deficient hexosaminidase A
accumulation of GM2 ganglionside
lysosomal storage disease - auto recessive
cherry red spot on macula, no hepatosplenomegaly, lysosomes with onion skin, neurodegeneration
tay sachs disease
deficient hexosaminidase A
tay sachs disease
deficient galactocerebrosidase
krabbe disease
accumulation of galactocerebroside and psychosine
krabbe disease
deficient galactocerebroside
accumulation of galactocerebroside and psychosine
lysosomal storage disease, autosomal recessive
deficient arylsulfatase A
metachromatic leukodystrophy
metachromatic leukodystrophy
deficient arylsulfatase A
-accumulation of cerebroside sulfate
lysosomal storage disease - auto recessive
hurler syndorme
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
hunter syndrome
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
ashkenazi jew
tay sachs
niemann pick
gaucher disease
citrate
for fatty acid synthesis
transferred from mitochondrial matrix to cytoplasm
carnitine shuttle
for breakdown of fatty acids
shuttle long chain fatty acid to from cytoplasm to the mitochondrial matrix
carnitine deficiency
defect transport long chain FAs - into mitochondria
toxic accumulation - weakness, hypotonia, hypoketotic, hypoglycemia
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
ketone bodies
acetoacetate
B-hydroxybutyrate
urine test for ketones
measure acetoacetate only
not B-hydroxybutyrate
prolonged starvation
OAA depleted for gluconeogenesis
buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies
diabetic ketoacidosis
OAA depleted for gluconeogenesis
buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies
alcoholism
excess NADH - shunt OAA to malat
buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies
1 gram of protein
4 kcal energy
1 gram of carbohydrate
4 kcal energy
1 gram of fat
9 kcal energy
1 gram of alcohol
7 kcal energy
glycogen reserves
depleted after 1 day
fasting - between meals
hepatic glycogenolysis -major
hepatic gluconeogenesis, adipose release of FFA - minor
starvation - 1-3 days
blood glucose
- hepatic glycogenolysis, adipose release FFAs
- muscle and liver - use FFA
hepatic gluconeogenesis
from lactate, alanine
and adipose tissue glycerl and prpionyl CoA
from odd-chain FFA
-only TG component for gluconeogenesis
starvation after 3 days
ketone bodies -main energy for brain
after depleted - protein degradation occurs - organ failure and death
RBCs
cannot utilize ketones
