Lysosomal Storage Diseases/Lipids EC Flashcards

1
Q

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.

A
Fabry disease (X-linked)
Galactosidase A deficiency
Ceramide trihexoside accumulation
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2
Q

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.

A
Gaucher disease (AR)
Glucocerebrosidase deficiency
Glucocerebroside accumulates
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3
Q

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

A

Neimann-Pick disease (AR)
Sphingomyelinase deficiency
Sphingomyelin accumulates

“NO MAN PICKS his nose with his SPHINGER”

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4
Q

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.

A

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

“tay-saX lacks heXosaminidase”

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5
Q

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.

A

Krabbe’s Leukodystriphy (AR)
Galactocerebrosidase deficiency
Galactocerebroside accumulates

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6
Q

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

A
Metachromatic Leukodystrophy (AR)
Arylsulfatase A deficiency
Cerebroside sulfate accumulates 

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

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7
Q

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.

A

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

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8
Q

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.

A

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

“Hunters see clearly and aim for the X”

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9
Q

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

A

Transports exogenous lipids to tissues

Broken down by lipoprotein lipase

Pancreatitis, Eruptive xanthomas, Lipemia retinalis

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10
Q

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

A

Transports endogenous lipids from liver to tissues

Broken down by lipoprotein lipase

Pancreatitis

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11
Q

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

A

Absorbed by tissues when cholesterol is needed

Absorbed into cells vie LDL-R

Atherosclerosis, Arcus cornea, Xanthomas

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12
Q

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

A

Transports cholesterol to liver or steroid-hormone producing tissues

Cholesterol esterase transfer-protein binds free cholesterol in bloodstream

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13
Q

Apolipoprotein A (function, associated lipoprotein, diseases)

A

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

Found in HDL

HDL deficiencies and hypercholesterolemia

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14
Q

Apolipoprotein B (function, associated lipoprotein, diseases)

A

B-48 chylomicrons
B-100 binds LDL-R

Found in VLDL, LDL, & chylomicrons

Deficient in abetalipoproteinemia (can’t absorb fats)

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15
Q

Apolipoprotein C (function, associated lipoprotein, diseases)

A

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

VLDL, HDL, Chylomicrons

Increased in hypertriglyceridemia

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16
Q

Apolipoprotein E (function, associated lipoprotein, diseases)

A

Transport TGs and cholesterol to liver

Chylomicrons, VLDL

deficient in dysbetalipoproteinemia

17
Q

Phosphatidyl-INOSITOL

A

Phospholipid that plays major role in cell signaling

18
Q

Phosphatodyl-CHOLINE

A

Key component of lipoproteins and cell membranes

19
Q

Phosphatidyl-ETHANOLAMINE

A

Membranes of nervous tissue cells (white matter)

20
Q

Phosphatidyl-SERINE

A

Membranes of myelin cells