Lysosomal storage dz

Question 1

Type I von Gierke

Answer 1

lactic acidosis, hyperlipidemia, hyperuricemia (gout)

• increased glycogen in liver, severe fasting hypoglycemia
• HSM, enlarge kidneys

-no GNG

Question 2

Type II Pompe

Answer 2

diaphram weakness –> resp failure

Question 3

Type III Cori

Answer 3

hepatomegaly, hypoglycemia, hyperlipidemia (NL kidneys, lactate, uric acid)

Question 4

Type V McArdle

Answer 4

painful muscle cramps, myoglobinuria w/ strenuous exercise

Question 5

Homocystinuria (aside)

Answer 5

Marfans+MR+thromboembolic events + fair complexion + DOWNWARD displacement of lens

• AR
• tx = high doses vit B6
• dz has high homocysteine and methionine

Question 6

PKU (aside)

Answer 6

phenylalanine hydroxylase deficiency

• increased Phenylalanine and phenyl ketones
• MR, fair complexious, blue eyes, eczema, musty body odor

Question 7

Krabbe’s dz (aside)

Answer 7

sphingolipidosis 2/2 beta-galactosidase deficiency

• total absence of myeline
• MR, blind, deaf, paralysis, peripheral motor sensory neuropathy, szs

Question 8

Tay Sach’s dz (aside)

Answer 8

sphingolipidosis 2/2 beta-hexosamindidase A defieciency

-MR, blindness, cherry-red macula, weakness, szs

Question 9

Fabry’s dz (aside)

Answer 9

sphingolipidosis 2/2 alpha-galactosidase def

-angiokeratomas, peripheral neuropathy, asymptomatic corneal dystrophy, kidney and heart failure, thromboembolic