Inborn Errors of Metabolism: GLycolipid Disorders

Question 1

Clinical Presentation:

fatigue, bony pain, enlarging abdomen

Answer 1

gaucher type 1 (AR)

Question 2

enzyme deficiency gaucher type 1

Answer 2

beta-glucosidase = glucocerebrosidase

Question 3

treatment gaucher type 1

Answer 3

Enzyme Replacement:
-Imiglucerase, Velaglucerase, Taliglucerase

Oral substrate Inhibition:
-eliglustat, miglustat

Question 4

key findings gaucher type 1

Answer 4

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

Question 5

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

Answer 5

tay sachs type 1 (AR)

Question 6

tay sachs type 1 deficiency and treatment

Answer 6

beta-hexosaminidase a

supportive treatment only- will die

Question 7

tay sachs type 1 key features

Answer 7

cherry red spot in eye

increased startle reflex

normal liver/ spleen

Question 8

case presentation:

child with acroparesthesias (pain in palms/ soles)

Answer 8

fabry (x-linked)

Question 9

case Presentation:

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

Answer 9

fabry (x-linked)

Question 10

case presentation:

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

Answer 10

fabry (x-linked)

Question 11

fabry enzyme and treatment

Answer 11

alpha- galactosidase deficiency

agalsidase beta treatment

Question 12

case presentation:

infant with muscle weakness and hypertrophic cardiomyopathy

Answer 12

pompe (AR) *lysosomal storage disease

Question 13

case presentation:

adult with proximal muscle weakness and sleep apnea

Answer 13

pompe (AR) *lysosomal storage disease

Question 14

pompe enzyme and treatment

Answer 14

alpha-glucosidase deficiency

alglucosidase alfa treatment

Question 15

case presentation:

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

Answer 15

hunter X-linked–> females have no disease

Question 16

hunter enzyme and treatment

Answer 16

i-dur-on-aTe Sulfatase deficiency

idurSulfase treatment

Question 17

Case presentation:

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

Answer 17

hurler AR: can happen in girls

Question 18

hurler enzyme and treatment

Answer 18

Alpha I-dur-on-i-Dase deficiency

iaroniDase treatment

Question 19

case presentation:

Muscle cramping after exercise; myogolbuinuria (coffee colored urine after exercise)

Answer 19

McARdle

Question 20

McArdle deficiency

Answer 20

glycogen phosphorylase

Question 21

Labs:

hepatosplenomegaly, short stature

Answer 21

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

Question 22

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

Answer 22

pompe

Question 23

labs:

proteinuria, LVH

Answer 23

fabry

Question 24

Enzyme & treatment:

Hunter vs. Hurler

Answer 24

Hunter:

• iduronate Sulfa-tase
• idurSulfase

Hurler:

• Alpha iduroniDase
• iaroniDase

Question 25

Enzyme:

Gaucher vs. pompe vs. fabry

Answer 25

Gaucher: enlarging abdomen
beta-glucosidase

Fabry: acroparesthesia, LVH
alpha-glucosidase

Pompe: CK, muscle weakness
alpha-galactosidase