Peds Biochemistry

Question 1

Lesch-Nyhan enzyme

Answer 1

HGPRT (self mutilation) Purine metabolism

Question 2

Lesch-Nyhan tx

Answer 2

Allopurinol

Question 3

Boy with Gout

Answer 3

Lesch-Nyhan

Question 4

Neiman-Picks

Answer 4

Sphingomyelinase deficiency Loss of motor milestones hypotonia feeding difficulties cherry-red macula hepatospleenomegaly areflexia

Question 5

B-hexosaminidase A deficiency

Answer 5

Tay Sachs

Question 6

Tay Sachs

Answer 6

B-hexosaminidase A deficiency Loss of motor milestones hypotonia Feeding Difficulties Cherry Red Macula Hyperreflexia

Question 7

What is diff between Neiman Picks and Tay Sachs

Answer 7

Neimann = Areflexia, hepatospleenomegaly

Tay Sachs = Hyperreflexia, no hepatospleenomegaly

Question 8

Krabbe disease

Answer 8

Galactocerebrosidase deficiency (lysosomal storage disorder) Similar to Tay Sachs and Neimann Picks with no cherry macula

blindness

deafness

paralysis

neuropathy

seizures

Question 9

Hurler

Answer 9

lysosomal hydrolase deficiency (lysosomal storage d/o) Presents 6 months-2 years with coarse facial features, umbilical hernias, corneal clouding, hepatospleenomegaly

Question 10

Gaucher

Answer 10

glucocerebrosidase anemia thrombocytopenia hepatosplenomegaly

Question 11

glucose 6 phosphatase dz

Answer 11

Von Gierkes

Question 12

VonGierkes presentation

Question 13

maple syrup urine disease

Answer 13

?

Question 14

Galactosemia

Answer 14

failure to thrive

bilateral cataracts

jaundice

hypoglycemia