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):
1

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

2

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

3

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"

4

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"

5

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

6

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)

7

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

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"

9

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

Transports exogenous lipids to tissues

Broken down by lipoprotein lipase

Pancreatitis, Eruptive xanthomas, Lipemia retinalis

10

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

Transports endogenous lipids from liver to tissues

Broken down by lipoprotein lipase

Pancreatitis

11

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

Absorbed by tissues when cholesterol is needed

Absorbed into cells vie LDL-R

Atherosclerosis, Arcus cornea, Xanthomas

12

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

13

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

14

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)

15

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

16

Apolipoprotein E (function, associated lipoprotein, diseases)

Transport TGs and cholesterol to liver

Chylomicrons, VLDL

deficient in dysbetalipoproteinemia

17

Phosphatidyl-INOSITOL

Phospholipid that plays major role in cell signaling

18

Phosphatodyl-CHOLINE

Key component of lipoproteins and cell membranes

19

Phosphatidyl-ETHANOLAMINE

Membranes of nervous tissue cells (white matter)

20

Phosphatidyl-SERINE

Membranes of myelin cells

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