Block 2 Flashcards
Von Gierke’s disease enzyme deficiency
glucose 6-phosphatase
Von Gierke’s disease presentation
hypoglycemia
hyperuricemia
lactic acidosis
hyperlipidemia
hepatomegaly
when is Von Gierke’s disease evident
at 6-9 months with weaning (increase in feeding schedule)
what is the treatment for Von Gierke’s disease
increase oral glucose throughout the day
what enzyme is deficient in Pompe’s disease
lysosomal alpha 1,4-glucosidase
what are the symptoms of Pompe’s disease
muscle hypotonia
cardiomegaly (death by age 2)
what is the difference between juvenile and adult onset of Pompe’s disease
juvenile- complete deficiency
adult- not complete deficiency
what are the symptoms of galactokinase deficiency
galactosuria
cataracts
what enzyme is deficient in classic galactosemia
galactose 1-phosphate uridyltransferase
what are the symptoms of classic galactosemia
cataracts
galactosuria
failure to thrive
liver dysfunction
what is the treatment for galactosemia
remove galactose and lactose from the diet
use soy milk as an alternative
what enzyme is deficient in essential fructosuria
fructokinase
what are the features of fructosuria
clinically benign due to no buildup of fructose
free glucose is used by hexokinase or excreted in the urine
what enzyme is deficient in hereditary fructose intolerance
aldolase B
what are the symptoms of hereditary fructose intolerance
fructose in blood
fructosuria
severe hypoglycemia after fructose ingestion
lethargy (lower Pi=low ATP)
what is the treatment for hereditary fructose intolerance
remove fructose and sucrose from diet
what is the deficiency in Cori disease/Forbe’s disease/limit dextrinosis
debranching enzyme
what are the features of Cori disease
accumulation of limit dextrins (short outer branches and single glucose residue at branches)
mild hypoglycemia
what is the deficiency in Andersen’s disease
branching enzyme
what is the deficiency in McArdle’s disease
myophosphorylase (muscle glycogen phosphorylase)
what are the symptoms of McArdle’s disease
muscle cramps and aches with exercise
myoglobinuria
no increase in lactate after exercise
increase in creatine kinase and aldolase from muscle
what is the deficiency in Her’s disease
liver glycogen phosphorylase
what is the deficiency in Wernicke syndrome
thiamine (vitamin B1)
what are the symptoms of Wernicke syndrome
ataxia
confusion
what are the symptoms of Wernicke syndrome
ataxia
confusion
opthalmoplegia
in what types of patients is Wernicke syndrome most common
alcoholics
malnurished
what are the symptoms of glucose 6-phosphate dehydrogenase deficiency
hemolytic anemia
jaundice
in what type of cells is G6PD deficiency most severe
RBC
what is the advantage of G6PD deficiency
protection against malaria
when is hereditary fructose intolerance evident
when baby is weaned from milk and starts consuming foods with fructose
when is galactokinase deficiency evident
days after birth with consumption of milk
what is leukocyte adhesion deficiency
loss of glycosylation on leukocyte surface proteins leads to absence of leukocytes from infection sites
how does Oselamivir (Tamiflu) work
it’s an analog of sialic acid which competitively inhibits viral HA and NA interaction with host cell, inhibiting viral infection and spread
what causes I cell disease
absence of mannose 6-phosphate leads to no lysosomal enzymes so there is a buildup of waste in the lysosomes (I cells)
what is the clinical presentation for I cell disease
elevated levels of acid hydrolases in blood
corneal clouding
gum hypoplasia
stiff joints
what causes osteoarthritis
depletion of aggrecan (PRG1) or lubricin (PRG4)–> loss of type II collagen–> loose painful joints
what is the enzyme that triggers osteoarthritis
matrix metalloprotease
what is the genetic deficiency that causes osteoarthritis
lubricin (PRG4)
what is the enzyme deficiency in Hunter syndrome
iduronate sulfatase
what is the enzyme deficiency in Hurler syndrome
L-iduronidase