Flashcards in Storage Diseases (Lysosomal + Glycogen) Deck (24):
Deficient enzyme? Accumulated metabolite? Symptoms? Inheritance?
Ceramide trihexoside buildup.
Angiokeratomas, Cardiac+Renal probs, painful neuropathy.
Gaucher cells (crumple tissue paper macros), hepatosplenomegaly, pancytopenia, severe bone+joint pain.
Dermatan & heparan sulfate buildup.
Gargoylism, corneal clouding, hepatosplenomegaly, develop delay.
iduronate sulfatase deficiency.
Dermatan and heparan sulfate buildup.
Hurlers but w/o corneal clouding and X-linked Recessive (Still have gargoylism, hepatosplenomegaly, develop delay).
Hepatosplenomegaly, cherry-red spot in macula, foam cells, progressive neurodegeneration.
Tay Sachs disease.
B-hexosaminidase A deficiency.
GM2 ganglioside buildup.
Cherry-red spot in macula, progressive neurodegeneration, NO HEPATOSPLENOMEGALY (differentiates from N-Pick).
Galactosyl-sphingosine & galactocerebroside builduip.
Progressive neurodegeneration and optic atrophy.
Arylsulfatase A deficiency.
Cerebroside sulfate buildup.
Muscle wasting, dementia, ataxia.
von Gierke disease (Type I)
Glycogen buildup in LIVER.
Only affects LIVER because that's the only location G6P should be. Hepatic steatosis.
Pompe disease (Type II)
lysosomal a-1,4-glucosidase deficiency.
Glycogen buildup in lysosomes.
Severe cardiomegaly, normal serum glucose
McArdles (Type V)
Glycogen phosphorylase deficiency.
Glycogen buildup in Muscle.
weakness+pain w/ exercise. Low lactate. Myoglobinuria. Symptoms improve with glucose infusion.
debranching enzyme deficiency (cant degrade a-1,6).
Dextrin buildup in hepatic cytosol.
Cerebroside sulfate accumulation?
Metachromatic leukodystrophy. Arylsulfatase A deficient
Angiokeratomas, cardiac+renal probs, painful neuropathy =?
fabry disease, a-galactosidase deficient, ceramide trihexoside builduip
Gargoylism, corneal clouding, hepatosplenomegaly, developmental delay =?
hurler syndrome because there is corneal clouding.
a-L-iduronidase deficiency (heparan sulfate buildup).
Without corneal clouding it would be hunter syndrome
Cherry-red macula, progressive neurodegeneration=?
Tay Sachs because no hepatosplenomegaly (would be Niemann-Pick if it had it).
Glucocerebroside buildup with macrophages that look like crumpled tissue paper?
Gaucher disease (crumple tissue paper macros are called Gaucher cells). Also have hepatosplenomeg, pancytopenia, severe bone+joint pain.
Glucocerebroside buildup w/ progressive neurodegeneration and optic atrophy?
Krabbe disease. Deficient galactocerebrosidase.
GM2 ganglioside buildup=?
Is there hepatosplenomegally w/ sphingomyelin buildup?
Yes. Niemann Pick
What is inheritance pattern of heparan sulfate buildup when there is no corneal clouding?
Hunter syndome is X-linked recessive
Patient presents w/ muscle wasting, dementia and ataxia =?
Gargoylism, hepatosplenomegaly, developmental delay=?
Hunter syndrome (no corneal clouding). Iduronate sulfatase deficiency