Storage Diseases (Lysosomal + Glycogen) Flashcards
Fabry Disease:
Deficient enzyme? Accumulated metabolite? Symptoms? Inheritance?
a-galactosidase deficiency.
Ceramide trihexoside buildup.
Angiokeratomas, Cardiac+Renal probs, painful neuropathy.
X-linked recessive.
Gaucher disease
B-glucocerebrosidase deficeincy.
Glucocerebroside buildup.
Gaucher cells (crumple tissue paper macros), hepatosplenomegaly, pancytopenia, severe bone+joint pain.
AR
Hurler syndrome
a-L-iduronidase deficiency.
Dermatan & heparan sulfate buildup.
Gargoylism, corneal clouding, hepatosplenomegaly, develop delay.
AR
Hunter syndrome
iduronate sulfatase deficiency.
Dermatan and heparan sulfate buildup.
Hurlers but w/o corneal clouding and X-linked Recessive (Still have gargoylism, hepatosplenomegaly, develop delay).
Niemann-Pick disease
Sphingomyelinase deficiency.
Sphingomyelin buildup.
Hepatosplenomegaly, cherry-red spot in macula, foam cells, progressive neurodegeneration.
AR.
Tay Sachs disease.
B-hexosaminidase A deficiency.
GM2 ganglioside buildup.
Cherry-red spot in macula, progressive neurodegeneration, NO HEPATOSPLENOMEGALY (differentiates from N-Pick).
AR
Krabbe disease
Galactocerebrosidase deficiency.
Galactosyl-sphingosine & galactocerebroside builduip.
Progressive neurodegeneration and optic atrophy.
AR
Metachromatic leukodystrophy.
Arylsulfatase A deficiency.
Cerebroside sulfate buildup.
Muscle wasting, dementia, ataxia.
AR
von Gierke disease (Type I)
glucose-6-phosphatase deficiency.
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.
Cori disease
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=?
TaySachs?
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 =?
metachromatic leukodystrophy
Gargoylism, hepatosplenomegaly, developmental delay=?
Hunter syndrome (no corneal clouding). Iduronate sulfatase deficiency
8-month old girl w/ regression of motor skills, startles to noise, loss of peripheral vision w/ abnormal red circular area of choroid at fovea centralis surrounded by white macula. Abdominal exam normal. Which metabolite accumulated?
GM2 ganglioside because this is TaySachs (cherry-red spot wOUT hepatosplenomegaly). B-hexosaminidase A deficiency.
