Storage Diseases

Question 1

Von Gierke

Answer 1

Glucose-6-phosphatase def

Ketotic hypoglycemia and hepatomegaly

Tx - cornstarch, allopurinol, G-CSF

Question 2

Pompe

Answer 2

Hypotonia

Hypertrophic cardiomyopathy

Dx - muscle or liver enzyme assay

Tx - enzyme replacement (lysosomal acid maltase def)

Question 3

Cori

Answer 3

Debra Ching enzyme def

Hepatomegaly and hypoglycemia

Tx - high protein diet +/– liver transplant

Question 4

Anderson

Answer 4

Glycogen debranching enzyme def

Liver cirrhosis and liver failure by age 2 - transplant

Question 5

McArdle

Answer 5

Muscle only

Muscle phosphorylase def

Fatigability and limited physical activity

Dx - muscle enzyme assay

Tx - sucrose before strenuous activity

Question 6

Tay Sachs

Answer 6

Hexosaminidase def –> ganglioside build up

Cherry red macula

Seizures

Auto recessive

Question 7

Gaucher Disease

Answer 7

Beta-glucocerebroside def –> glucocerebroside build up

Hepatosplenomegaly

Lyric lesions and aseptic necrosis of femur –> bone pain

Gaucher cells - macrophages that look like crumpled paper due to fibrillation cytoplasm

More mild forms may not present until adolescence (delayed puberty, failure to thrive)

Auto recessive

Question 8

Krabbe

Answer 8

Galactocerebroside def –> galactocerebroside build up

Optic atrophy and developmental delay

Auto recessive

Question 9

Fabry Disease

Answer 9

Alpha-galactosidase def –> ceramics trihexoside build up

Burning pain, peripheral neuropathy

“Ceramics burn in fire”

X-linked recessive

Question 10

Niemman Pick

Answer 10

Sphingomyelinase def –> sphingomyelin build up

Cherry red macula

Neuro Degeneration

Foam cells - foamy vacuolated macrophages in bone marrow

HEPATOSPLENOMEGALY

Auto recessive

Question 11

Metachromatic Leukodystrophy

Answer 11

Arylsulfatase def –> cerebrospinal sulfate build up

Demyelination with ataxia and dementia

AUTO REC