Lysosomal Storage Diseases

Question 1

Fabry’s Disease

X-linked Recessive

Answer 1

Deficiency in alpha-galactosidase A –> buildup of ceramide trihexoside

Neuropathy, angiokeratomas, decreased sweat

Question 2

Gaucher’s Disease

Most common LSD

Answer 2

Deficiency in glucocerebrosidase –> buildup of glucocerebroside

Hepatosplenomegaly, anemia, joint pain, abnormal macrophages

Associated with Ashkenazi Jews

Question 3

Niemann-Pick Disease

Answer 3

Deficiency in sphingomyelinase –> buildup of sphingomyelin

Hepatosplenomegaly, progressive neuro impairment, cherry-red spot on macula, foam cells

Associated with Ashkenazi Jews

Question 4

Krabbe’s Disease

Answer 4

Deficiency in galactocerebrosidase –> buildup of galatocerebroside

Only has neuro symptoms: progressive weakness in infant, globoid cells

Question 5

Tay-Sachs Disease

Answer 5

Deficiency in hexosaminidase –> buildup of GM2 ganglioside

Progressive neurodegeneration in an infant (developmental delay and exaggerated startle response), cherry-red spot on the macula, lysosomes with onion skinning

Associated with Ashkenazi Jews

Question 6

Metachromatic leukodystrophy

Answer 6

Deficiency in arylsulfatase A –> buildup of sulfatides

Ataxia, hypotonia, and dementia in childhood

Question 7

Hurler’s Syndrome

Answer 7

Deficiency in alpha-L-iduronidase –> buildup of heparan and dermatan sulfate

Coarse facial features, short stature, mental retardation, hepatosplenomegaly, corneal clouding, pulmonary infections before the age of 1

Question 8

Hunter’s Syndrome

X-linked recessive

Answer 8

Deficiency in iduronate-2-sulfatase –> buildup of heparan and dermatan sulfate

Behavioral problems, coarse facial features, mental retardation, and hepatosplenomegaly btw age 1-2

Question 9

I cell Disease

Answer 9

Failed processing in Golgi apparatus: Mannose-6-phosphate not added to lysosomal proteins

Onset in 1st year of life: growth delay coarse facial features, joint abnormalities, corneal clouding (similar to Hurler’s disease

Decreased intracellular enzymes and increased extracellular enzymes with intracellular inclusions in lymphocytes and fibroblasts

Question 10

Pompe’s Disease

Answer 10

Deficiency in acid alpha-glucosidase deficiency –> buildup of glycogen in lysosomes
Enlarged heart/tongue, hypotonia, and no metabolic problems

Question 11

Von Gierkes Disease

Answer 11

Deficiency in glucose-6-phosphatase deficiency

Severe hypoglycemia between meals, hepatomegaly, and lactic acidosis

Question 12

Cori’s disease

Answer 12

Deficiency in debranching enzyme

Hypoglycemia and hepatomegaly

Question 13

McArdle’s disease

Answer 13

Deficiency in glycogen phosphorylase

Exercise intolerance, cramps, urine turns dark after exercise