Biochem Flashcards
Essential fructosuria
No fructokinase
Fructose accumulates in urine
Hereditsry f intolerance
No aldolass B, so no fructose to GAP and DHAP
Increased in F1P in cells, so trapping occurs, try to eat less fruity
Shit
Galactikinase deficiency
Cataracts, no social smile, cant track objects
Galactosemia
Uridyltransferqse
Breast feeding manifests
Cataracts again plus jaundice in babies
E coli and sepsis in neonates
So change diet
Von gierke disease
G6phosphatase lacked
Hyperglycemia, gout, increased glycogen
(All
Gs)
High urate levels and truglycerides
So change diet, avoid sugars
Pompe disease
Alpha 1,4 glucosidase deficiency
Heart affected, cardiomyopathy
Hypotonia muscles
Difficulty bresthing
Cori disease
No debranching enzymes
Dextrins collects, but normal lactate levels, mild hypoglycemia
McArdle Idsease
Glycogen ohosphorylase deficiency in skeletal muscles
Elevated creatinine kinase
Muscle cramling, myoglobunuria
Second wind phenomenon
Metachromatic leukodystrophy
Ataxia and memory loss
Demyelination
Tay sachs
Hexosamidase A deficiency
Right spot on macula, cherry red
Onion skin lysosomes, accumulated ganglioside
Niemann pick disease
Sphingomyelinase
Cherry red but also hepatosplenomegaly
Fabry disease
Alpha galactosidase A
Peripheral N, angiokeratomas, hypohydrosis
X linked rec
Gaucher disease
Hepatomegaly
Cytopenias
AVN
Glucocerebrosidase deficiency
Krabbe disease
Galactocerebrosidase
Optic nerve atrophy/blindness
Globoid cells
Hunter disease
Collection of heparan sulfate
X linked
Prederved vision
