metabolism disorders Flashcards
Von Gierke disease (type I) enzyme
Glucose-6-phosphatase (AR)
Pompe Disease (type II) enzyme
Lysosmal acid α-1-4- glucosidase (acid maltase) with α-1-6- glucosidase activity (AR)
Cori disease (type III) enzyme
Debranching enzyme (α-1,6-glucosidase and 4-α-D-glucanotransferase) (AR)
Andersen disease (type IV) enzyme
Branching enzyme (AR)
McArdle disease (type V) enzyme
Skeletal muscle glycogen phosphorylase (myophosphorylase) (AR)
Tay-Sachs disease
Hexosaminidase A (AR)
Fabray Disease enzyme
α-galactosidase A (XR)
Metachormatic leukodystrophy enzyme
Arylsulfatase A (AR)
Karbbe disease enzyme
Galactocerebrosidase (galactosylceramidase) (AR)
Gaucher disease enzyme
Glucocerebrosidase (β-glucosidase) (AR)
Neimann-Pick disease enzyme
Sphingomyelinase (AR)
Hurler Syndrome enzyme
α-L-iduronidase (AR)
Hunter Syndrome enzyme
Iduronate-2-sulfatase (XR)
Von Gierke Presentation
Severe hypoglycemia increased blood lactate levels increased triglycerides Gout (increased uric acid) Hepatomegaly/ renomegaly
Pompe Disease Presentation
Cardiomyopathy,
hypotonia,
exercise intolerance
Cori diseases presentation
Similar to von Gierke disease,
but milder symptoms and
normal blood lactate levels.
Can lead to cardiomyopathy.
Andersen disease presentation
hepatosplenomegaly
failure to thrive in early infancy.
infantile cirrhosis,
muscular weakness,
hypotonia,
cardiomyopathy earlychildhood death
McArdle Disease presentation
painful muscle cramps,
myoglobinuria (red urine) with strenuous exercise, and
arrhythmia from electrolyte abnormalities
Subsarcolemmal acid-Schiff-positive deposits (accumulation of glycogen)
Tay Sachs Disease presentation
Progressive neurodegeneration, developmental delay, hyperreflexia, “cherry-red” spot on macula (lipid accumulation in ganglion cell layer), lysosomes with onion skin NO hepatosplenomegaly
Niemann Pick disease presentation
Progressive neurodegeneration,
hepatosplenomegaly,
foam cells (lipid-laden macrophages)
“cherry-red” spot on macula
Fabry disease presentation
Early: triad of episodic peripheral neuropathy, angiokeratomas B , hypohidrosis.
Late: progressive renal failure, cardiovascular disease.
Metachromatic Leukodystrophy presentation
Central and peripheral demyelination with ataxia, dementia
Krabbe Disease presentation
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells.
Gaucher Disease presentation
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises, (lipid-laden macrophages resembling crumpled tissue paper).
Hurler syndrome presentation
Developmental delay, skeletal abnormalities, airway obstruction, hepatosplenomegaly, corneal clouding,
Hunter syndrome presentation
Developmental delay, skeletal abnormalities, airway obstruction, hepatosplenomegaly aggressive behavior, no corneal clouding
Galactokinase Deficiency (enzyme/pathway)
Galactose—(GALK)—> Galactose-1-P
Galactokinase(GALK)- AR
Galactokinase Deficiency presentation
galactosemia
galactosuria
infantile cataracts.
May present as failure to track objects or to develop a social smile.
classic galactosemia (enzyme/ pathway)
Galactose-1-P –(GALT)—> Glucose-1-P
galactose-1-phosphate uridyltransferase (GALT) -AR
classic galctosemia presentation
include failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. hypoglycemia predispose to E coli sepsis in neonates.
Essential fructosuria (enzyme pathway)
Fructose –(FK)–> Fructose-1-P
Fructokinase (AR)
essential fructosuria presentation
asymptomatic.
fructose in blood and urine
Hexokinase converts fructose to fructose-6-phosphate
Hereditary Fructose Intolerance (enzyme/ pathway)
Fructose-1-P—(Ald B)–> Glyceraldehyde & Dihydroxyacetone phosphate
Aldolase B (AR)
Hereditary Fructose Intolerance presentation
Vomiting Failure to thrive Jaundice (can progress to cirrhosis) Severe hypoglycemia Hepatomegaly
