Inborn Errors of Metabolism: GLycolipid Disorders Flashcards Preview

Dems Unit 2 Part 2 YAAAY > Inborn Errors of Metabolism: GLycolipid Disorders > Flashcards

Flashcards in Inborn Errors of Metabolism: GLycolipid Disorders Deck (25)
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1

Clinical Presentation:
fatigue, bony pain, enlarging abdomen

gaucher type 1 (AR)

2

enzyme deficiency gaucher type 1

beta-glucosidase = glucocerebrosidase

3

treatment gaucher type 1

Enzyme Replacement:
-Imiglucerase, Velaglucerase, Taliglucerase

Oral substrate Inhibition:
-eliglustat, miglustat

4

key findings gaucher type 1

adult onset
big liver/ spleen
anemia/ low platelets
erlenmeyer flask deformity

5

Clinical Presentation:
Infant
blindness, seizures, mental/ motor deterioration

tay sachs type 1 (AR)

6

tay sachs type 1 deficiency and treatment

beta-hexosaminidase a

supportive treatment only- will die

7

tay sachs type 1 key features

cherry red spot in eye

increased startle reflex

normal liver/ spleen

8

case presentation:
child with acroparesthesias (pain in palms/ soles)

fabry (x-linked)

9

case Presentation:
adult with proteinuria, angiokeratoma, renal failure, cardiac hypertrophy, chronic irritable bowel

fabry (x-linked)

10

case presentation:
adult male with angiokeratoma (bathing suit distribution,); acroparesthesias; family history renal failure in males

fabry (x-linked)

11

fabry enzyme and treatment

alpha- galactosidase deficiency
agalsidase beta treatment

12

case presentation:
infant with muscle weakness and hypertrophic cardiomyopathy

pompe (AR) *lysosomal storage disease

13

case presentation:
adult with proximal muscle weakness and sleep apnea

pompe (AR) *lysosomal storage disease

14

pompe enzyme and treatment

alpha-glucosidase deficiency
alglucosidase alfa treatment

15

case presentation:
Coarse-appearing child, who is short, has hoarse voice, frequent URIs and some learning problems; NO corneal clouding

hunter X-linked--> females have no disease

16

hunter enzyme and treatment

i-dur-on-aTe Sulfatase deficiency
idurSulfase treatment

17

Case presentation:
Coarse facies, big liver/spleen, major skeletal problems, corneal clouding

hurler AR: can happen in girls

18

hurler enzyme and treatment

Alpha I-dur-on-i-Dase deficiency
iaroniDase treatment

19

case presentation:
Muscle cramping after exercise; myogolbuinuria (coffee colored urine after exercise)

McARdle

20

McArdle deficiency

glycogen phosphorylase

21

Labs:
hepatosplenomegaly, short stature

Hunter (only boys x-linked) or Hurler (AR boys or girls)

22

Labs:
elevated CK
no cherry red spot
normal liver/ spleen
glycogen on muscle biopsy

pompe

23

labs:
proteinuria, LVH

fabry

24

Enzyme & treatment:
Hunter vs. Hurler

Hunter:
-iduronate Sulfa-tase
-idurSulfase

Hurler:
-Alpha iduroniDase
-iaroniDase

25

Enzyme:
Gaucher vs. pompe vs. fabry

Gaucher: enlarging abdomen
beta-glucosidase

Fabry: acroparesthesia, LVH
alpha-glucosidase

Pompe: CK, muscle weakness
alpha-galactosidase