All diseases to know Flashcards
Enzyme the allows tissues to use ketone bodies
Beta ketoacyl-CoA transferase
Rate limiting step of Acetoacetate synthesis
HMCCo-A synthase
Galactose diseases
Galactokinase deficiency
Galactosemia -deficiency in galactose 1-P uridyltransferase
Essential Fructosuria
Fructokinase deficiency benign
Frutose intolerance
Aldolase B deficiency “Aldolase -“Bad”
Alkaptonuria
non functional Homogentisate 1,2-dioxygenase leads to a build up of Maleylacetoacetic acid
-turns color when oxidized
OTC deficiency
Deficiency in Ornithine transcarbamylase
High NH4
Homocystinuria
Deficiency in Cystathione beta synthase
elevated blood and urine homocysteine
Aquired form can be due to vitB 12 def
Von Gierke Disease
Glucose 6-phosphatase deficiency
effects both gluconeogenesis and glycogenolysis
build up of liver glycogen
Classical Galactosemia
GALT deficiency
Cant convert galactose to Glucose 1phosphate
So, build up of Galactose1-phosphate
Lipoprotein lipase deficiency
LPL is essential for breaking down triglycerides (chylomicrons and VLDLS). which facilitates the uptake of FA into adipocytes.
Deficiency results in high chylomicrons.
MCAD
Impaired oxidation of MCFA
-cant use Ace-CoA dehydrogenase ,so will have low glucose and low ketone bodies.
Adenosine Deaminase Deficiency
excess deoxyadenosine
cant make other deoxy form , decreased DNA rep, SCID,
MELAS
Myopathy Encephalopathy Lactic Acidosis Sepsis
mtDNA (A3243G)
Pompe Disease
Lysosome deficiency -deficiency in Acid alpha-glucosidase)
Glycogen accumulation in the lysosome
Type II glycogen storage disease
Treated by enzyme replacement therapy.
