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12 Cards in this Set

  • Front
  • Back
"hunters aim for the X" (X-linked recessive)


mild Hurler's + agressive behavior
No corneal clouding
Deficient enzyme: Iduronate Sulfatase

Accumulation: Heparan sulfate, dermatan sulfate

Inheritence: XR

Developmental delay
Airway obstruction
Corneal clouding

Deficient enzyme: alpha-L-Iduronidase

Accumulation: Heparan sulfate, dermatan sulfate

Inheritence: AR
Metachromatic Leukodystrophy
Central and peripheral de-myelination with ataxia

Deficient enzyme: Aryl sulfatase A (pt can't degrade sulfitides--cerebroside sulfate accumulates)
leads to abnormal myelination and de-myelination in CNS and perphery

histology: metachromatic granules

Accumulation: Cerebroside Sulfate

Inheritence: AR
Krabbe's disease
peripheral neuropathy, developmental delay, optic atrophy

Deficient enzyme: Beta galactosidase

Accumulation: Galactocerebroside

Inheritence: AR
Tay Sacks disease
(Ashkenazi jews)
"Tay Sax--lacks heXominidase"

progressive neurodegeneration(mental retardation), developmental delay, cherry red spot, lysozymes with onion skin
hyperacusis, hypotonia
death by 3 y/o

Deficient enzyme: Hexoaminidase A

Accumulation: GM2 ganglioside

Inheritence: AR
Nieman-Pick disease
(Ashkenazi jews)
"no man picks his nose with his sphinger" (sphingomyelinase)

progressive neurodegeneration (Mental retardation)
hepatosplenomegaly (large belly)
cherry red spot on macula
"foamy" macrophages
death by age 3
Deficient enzyme: Sphingomyelinase

Accumulation: Sphingomyelin

Inheritence: AR
Gaucher's Disease
most common lysosomal storage disease
Hepatosplenomegaly, aseptic necrosis of the femur, bone crisis, Gaucher's cells (macrophages)
no mental retardation!

Deficient enzyme: Beta-Glucocerebrosidase

Accumulation: Glucocerebroside

Inheritence: AR
(Ashkenazi jews)
Farby's disease
peripheral neuropathy of hands and feet. Angiokeratomas
Cardiovascular/renal disese

Deficient enzyme: Alpha galactosidase A

Accumulation: Ceramide trihexoside (gets deposited in the vascular endothelium)

Inheritence: XR
Von Gierke's disease (type I)
Glycogen Storage disease

Deficient enzyme: Glucose-6-phosphate

Presentation: Severe fasting hypoglycemia,Increased glycogen in liver, increased lactate in blood, hepatomegaly
("liver becomes a muscle")
Pompe's Disease (type II)
Glycogen Storage disease

Lysosomal alpha 1,4-glucosidase (acid maltase)

Cardiomegaly, systemic findings---leads to early death

"Pompe trashes the pump--heart ,liver and muscle"
Cori's Disease (Type III)
Glycogen Storage disease

Deficiency of debranching enzyme -- alpha 1,6 glucosidase

"milder form of type I with normal blood lactate levels"
McArdle's disease (type V)
Glycogen Storage disease

Glycogen Storage disease
McArdle's = muscle

deficiency of skeletal muscle glycogen phosphorylase

Symptoms: Increased glycogen in muscle--cannot break it down leading to painful muscle cramps, myoglobinuria w/ strenuous exercise