Biochem diseases: presentations and enzymes

Question 1

Kid with pancreatitis and increases VLDL and TG. Strong family hx of these symptoms. Disease?

Answer 1

Hypertriglyceridemia

Question 2

Underlying genetic defect in hypertriglyceridemia? Inheritance pattern?

Answer 2

Hepatic overproduction of VLDL

AD

Question 3

25 y/o has an Achilles tendon xanthoma and corneal arcus. His dad died at 35 from an MI. Disease?

Answer 3

Familial hypercholesterolemia

Question 4

Underlying genetic defect in familial hypercholesterolemia? Inheritance pattern?

Answer 4

Absent/defective LDL receptors

AD

Question 5

Guy w/ hx of pancreatitis starting in childhood; he now also has HSM and xanthomas. Testing shows increased blood CMs, TGs, and CH. Disease?

Answer 5

Hyperchylomicronemia

Question 6

2 potential underlying genetic defects in hyperchylomicronemia? Inheritance pattern?

Answer 6

LPL deficiency or altered apoC-2

AR

Question 7

Kid presents with decreased ketones and hypoglycemia after a 16 hr fast. Disease?

Answer 7

Acyl-CoA DH deficiency

Question 8

MC type of Acyl-CoA DH deficiency?

Answer 8

Medium chain acyl-CoA DH deficiency

Question 9

Kid with weakness, hypotonia, and hypoketotic hypoglycemia. Buildup of LCFAs in cytoplasm. Disease?

Answer 9

Carnitine deficiency

Question 10

Kid with peripheral neuropathy, developmental delay, optic atrophy, and globoid cells. Disease?

Answer 10

Krabbe disease

Question 11

Krabbe disease: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 11

Galactocerebrosidase
Galactocerebroside + psychosine
AR

Question 12

Kid w/ progressive neurodegeneration, HSM, cherry-red spot on macula. Lipid-laden macrophages seen on smear. Disease?

Answer 12

Niemann-Pick

Question 13

Niemann-Pick: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 13

Sphingomyelinase
Sphingomyelin
AR

Question 14

Kid w/ developmental delay, gargoylism, airway obstruction, corneal clouding, and HSM. Disease?

Answer 14

Hurler syndrome

Question 15

Hurler syndrome: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 15

Alpha-L-iduronidase
Heparan sulfate + dermatan sulfate
AR

Question 16

Kid w/ central and peripheral demyelination, ataxia, and dementia. Disease?

Answer 16

Metachromic leukodystrophy

Question 17

Metachromic leukodystrophy: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 17

Arylsulfatase A
Cerebroside sulfate
AR

Question 18

Kid w/ progressive neurodegeneration, developmental delay, cherry-red spot on macula, and onion-skinned lysosomes. Disease?

Answer 18

Tay-Sachs

Question 19

Tay-Sachs: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 19

Hexosaminidase A
GM2 ganglioside
AR

Question 20

Kid w/ mild developmental delay, gargoylism, airway obstruction, HSM, and aggressive behavior. Disease?

Answer 20

Hunter syndrome

Question 21

Hunter syndrome: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 21

Iduronate sulfatase
Heparan sulfate + dermatan sulfate
XLR

Question 22

Kid w/ HSM, pancytopenia, aseptic necrosis of bone, and bone crises. Have lipid-laden macrophages that can look like crumpled tissue paper. Disease?

Answer 22

Gaucher

Question 23

Gaucher disease: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 23

Glucocerebrosidase (aka beta-glucosidase)
Glucocerebroside
AR

Question 24

Kid w/ hypohidrosis, angiokeratomas, CV/renal disease, acroparasthesias, and peripheral neuropathy. Disease?

Answer 24

Fabry

Question 25

Fabry dz: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 25

Alpha-glucosidase A
Ceramide trihexoside
XR

Question 26

Kid has painful muscle cramps and red pee after exercising, potentially arrhythmia if it gets bad. Disease?

Answer 26

McArdle disease

Question 27

McArdle disease: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 27

Muscle glycogen phosphorylase
Glycogen
AR

Question 28

Kid w/ cardiomyopathy, macroglossia, etc. who dies very young. Glycogen build-up in lysosomes. Disease?

Answer 28

Pompe dz

Question 29

Pompe: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 29

Lysosomal alpha-1,4-glucosidase (acid maltase)
Glycogen accumulates in lysosomes
AR

Question 30

Kid w/ severe fasting hypoglycemia, hepatomegaly, “doll-like facies”, increased hepatic glycogen, increased blood lactate. Disease?

Answer 30

Von Gierke dz

Question 31

Von Gierke: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 31

Glc-6-phosphatase
Glycogen/glc-1-P
AR

Question 32

Kid w/ fasting hypoglycemia, increased amounts of limit-dextrin-like polysaccharides in liver. Disease?

Answer 32

Cori dz

Question 33

Cori dz: name the deficient enz, accumulated substrate(s), and inheritance pattern

Answer 33

Alpha-1,6-glucosidase, a debranching enz
Partially debranched glycogen
AR