Biochem diseases and mutations

Question 1

Adenosine deaminase deficiency

Answer 1

Adenosine deaminase (duh)

Question 2

Lesch-Nyhan Syndrome

Answer 2

Absent HGPRT

Question 3

Xeroderma pigmentosum

Answer 3

Defective ntide excision repair

Question 4

HNPCC

Answer 4

Defective mismatch repair

Question 5

Ataxia telangiectasia

Answer 5

Defective nonhomologous end joining

Question 6

I cell dz

Answer 6

Defective phosphotransferase

Question 7

Parkinson dz (only some types)

Answer 7

Defects in ubiquitin-proteasome system

Question 8

Kartagener syndrome

Answer 8

Defect in dyenin arm

Question 9

OI type 1

Answer 9

Decreased production of type 1 collagen

Question 10

Vascular type of EDS

Answer 10

Defect in type III collagen

Question 11

Alport syndrome

Answer 11

Defective type IV collagen

Question 12

Goodpasture syndrome

Answer 12

AutoAb against type IV collagen

Question 13

Hypermobility type EDS

Answer 13

Defect in collagen X-linking

Question 14

Classical EDS

Answer 14

Mutation in type V collagen

Question 15

Menkes dz

Answer 15

Impaired copper absorption and transport

Question 16

Marfan syndrome

Answer 16

Defect in fibrillin-1

Question 17

Prader-Willi

Answer 17

Maternal imprinting (mom gene is normally silent; dad gene is deleted/mut); chr 15. 
25% of cases are from maternal UPD

Question 18

Angelman syndrome

Answer 18

Paternal imprinting (dad gene is normally silent; mom gene is deleted/mut); chr 15
5% of cases are from paternal UPD

Question 19

Mitochondrial myopathies

Answer 19

Failure in oxidative phosphorylation

Question 20

DMD

Answer 20

Frameshift mutation in dystrophin

Question 21

BMD

Answer 21

Point mutation in dystrophin

Question 22

Myotonic dystrophy

Answer 22

TNR: CTG repeats–> abnormal expression of myotonin protein kinase

Question 23

Fragile X syndrome

Answer 23

TNG: CGG–>mutated FMR1 gene

Question 24

HD

Answer 24

TNR-CAG repeats

Question 25

Friedrich ataxia

Answer 25

TNR- GAA repeats

Question 26

Down syndrome

Answer 26

Trisomy 21

Question 27

Patau syndrome

Answer 27

Trisomy 13

Question 28

Edward syndrome

Answer 28

Trisomy 18

Question 29

Cri-du-chat syndrome

Answer 29

Congenital microdeletion of short arm of chr 5

Question 30

Williams syndrome

Answer 30

Congenital microdeletion of long arm of chr 7 (deleted region includes elastin gene)

Question 31

DiGeorge syndrome

Answer 31

22q11 deletion syndrome

Question 32

Velocardiofacial syndrome

Answer 32

22q11 deletion syndrome

Question 33

Mild galactosemia

Answer 33

Galactokinase deficiency

Question 34

Severe (classical) galactosemia

Answer 34

Galactose-1-phosphate uridyltransferase deficiency

Question 35

Essential fructosuria

Answer 35

Fructokinase

Question 36

Fructose intolerance

Answer 36

Aldolase B

Question 37

CGD

Answer 37

NADPH oxidase

Question 38

G6PD deficiency

Answer 38

Def. G6PD

Question 39

N-acetylglutamate deficiency

Answer 39

Absent N-acetylglutamate

Question 40

Orinthine transcarbamylase deficiency

Answer 40

You know the answer to this

Question 41

PKU

Answer 41

Decreased phenylalanine hydroxylase

Question 42

Malignant PKU

Answer 42

Decreased tetrahydrobiopterin

Question 43

Alkaptonuria

Answer 43

Deficiency of homogentisate oxidase

Question 44

Homocystinuria (3 types/defects total)

Answer 44

1. Cystathionine synthase deficiency 2. Decreased affinity of cystathionine synthase for pyridoxal phosphate 3. Deficiency of homocysteine methyltransferase

Question 45

Cystinuria

Answer 45

Defect of renal PCT and intestinal amino acid transporter for cys, orinthine, lys, and arg.

Question 46

Maple syrup urine dz

Answer 46

Decreased alpha-ketoacid DH

Question 47

Von Gierke dz

Answer 47

Deficient glc-6-phosphatase

Question 48

Pompe dz

Answer 48

Deficient lysosomal alpha-1,4-glucosidase (acid maltase)

Question 49

Cori dz

Answer 49

Deficient debranching enz (alpha-1,6-glucosidase)

Question 50

McArdle dz

Answer 50

Deficient skeletal muscle glycogen phosphorylase (myophosphorylase)

Question 51

Fabry dz

Answer 51

Deficient alpha-galactosidase A

Question 52

Gaucher dz

Answer 52

Deficient glucocerebrosidase (beta-glucosidase)

Question 53

Neimann-Pick dz

Answer 53

Deficient sphingomyelinase

Question 54

Tay-Sachs dz

Answer 54

Deficient hexosaminidase A

Question 55

Krabbe dz

Answer 55

Deficient galactocerebrosidase

Question 56

Metachromic leukodystrophy

Answer 56

Deficient arylsulfatase A

Question 57

Hurler syndrome

Answer 57

Deficient alpha-L-iduronidase

Question 58

Hunter syndrome

Answer 58

Deficient iduronate sulfatase

Question 59

Hyperchylomicronemia (2 possible deficiencies/mutations)

Answer 59

1. Deficient lipoprotein lipase | 2. Altered apolipoprotein C-II

Question 60

Familial hypercholesterolemia

Answer 60

Absent/defective LDL-receptors

Question 61

Hypertriglyceridemia

Answer 61

Hepatic overproduction of VLDL