Lysosomal Storage Diseases/Lipids EC Flashcards Preview

Evan's Step 1 Prep Material > Lysosomal Storage Diseases/Lipids EC > Flashcards

Flashcards in Lysosomal Storage Diseases/Lipids EC Deck (20):

13 y/o boy w/ episodic burning pain in hands, feet, arms, and legs after physical activity/illness. Telangiectatic non-blanching skin lesions on back. Elevated BUN/creatinine. Corneal and lenticular lesions.

Fabry disease (X-linked)
Galactosidase A deficiency
Ceramide trihexoside accumulation


13 y/o with increased forgetfulness. Prone to fractures. Hepatosplenomegaly and defective lateral gaze tracking. Bone marrow biopsy reveals "wrinkled tissue paper" lipid laden macrophages.

Gaucher disease (AR)
Glucocerebrosidase deficiency
Glucocerebroside accumulates


1 y/o w/ seizures and spastic movement. Diminished vision dyspnea, and hepatosplenomegaly. Bone marrow biopsy reveals "foam cells". Cherry red spot on macula.

Neimann-Pick disease (AR)
Sphingomyelinase deficiency
Sphingomyelin accumulates

"NO MAN PICKS his nose with his SPHINGER"


1 y/o Ashkenazi Jewish boy brought in for lethargy. On p/e, exaggerated startle reflex, fixed gaze, large head, cherry red-spot on macula and "Onion skin" lysosomes. No hepatosplenomegaly.

Tay-Sachs disease (AR)
Hexoseaminidase A deficiency
GM2 ganglioside accumulates

"tay-saX lacks heXosaminidase"


1 y/o girl brought in for increased irritability and stiff, jerky movements. On p/e, small for age, hyperactive DTRs, hamstring rigidity. Lack of startle reflex due to decreased vision/hearing.

Krabbe's Leukodystriphy (AR)
Galactocerebrosidase deficiency
Galactocerebroside accumulates


2 y/o boy brought in of decreased ability to stand and walk. Ataxic (& dimentia), hyperreflexive DTRs.

Metachromatic Leukodystrophy (AR)
Arylsulfatase A deficiency
Cerebroside sulfate accumulates

(can present as adrenal leukodystrophy w/ adrenal atrophy and Addison's)


1 y/o boy brought to ophthalmologist due to corneal clouding. Small for age, macroglossia, coarse facial features (gargoylism), joint stiffness, valvular heart disease, corneal opacities and papilledema.

Hurler disease- Mucopolysaccharidosis (AR)
Iduronisase deficiency
Heparan sulfate/Dermatan sulfate accumulate


8 y/o boy brought in due to joint stiffness. On p/e, coarse facial features, macroglossia, small jaw, aggressive behavior, hepatosplenomegaly. Pebbly skin on back. Retinal degeneration but no corneal clouding.

Hunter's disease- Mucopolysaccharidosis (XR)
Iduronate sulfatase deficiency
Heparan sulfate/Dermatan sulfate accumulate

"Hunters see clearly and aim for the X"


Chylomicron (function, enzyme/receptor, consequences of excess)

Transports exogenous lipids to tissues

Broken down by lipoprotein lipase

Pancreatitis, Eruptive xanthomas, Lipemia retinalis


VLDL (function, enzyme/receptor, consequences of excess)

Transports endogenous lipids from liver to tissues

Broken down by lipoprotein lipase



LDL (function, enzyme/receptor, consequences of excess)

Absorbed by tissues when cholesterol is needed

Absorbed into cells vie LDL-R

Atherosclerosis, Arcus cornea, Xanthomas


HDL (function, enzyme/receptor, consequences of excess)

Transports cholesterol to liver or steroid-hormone producing tissues

Cholesterol esterase transfer-protein binds free cholesterol in bloodstream


Apolipoprotein A (function, associated lipoprotein, diseases)

A-1 activates LCAT (traps cholesterol in HDL)
A-2-4 activate PLTP (transfer phospholipids to HDL)

Found in HDL

HDL deficiencies and hypercholesterolemia


Apolipoprotein B (function, associated lipoprotein, diseases)

B-48 chylomicrons
B-100 binds LDL-R

Found in VLDL, LDL, & chylomicrons

Deficient in abetalipoproteinemia (can't absorb fats)


Apolipoprotein C (function, associated lipoprotein, diseases)

C-1 inhibits cholesterol ester transfer protein
C-2 activates lipoprotein lipase
C-3 inhibits lipoprotein lipase

VLDL, HDL, Chylomicrons

Increased in hypertriglyceridemia


Apolipoprotein E (function, associated lipoprotein, diseases)

Transport TGs and cholesterol to liver

Chylomicrons, VLDL

deficient in dysbetalipoproteinemia



Phospholipid that plays major role in cell signaling



Key component of lipoproteins and cell membranes



Membranes of nervous tissue cells (white matter)



Membranes of myelin cells

Decks in Evan's Step 1 Prep Material Class (72):