First Aid - Biochem + Genetics Diseases

Question 1

Name the defect/deficiency and inheritance pattern, if applicable.

Ostoegenesis imperfecta

Answer 1

Type I collagen; AD

Question 2

Name the defect/deficiency and inheritance pattern, if applicable.

Alport syndrome

Answer 2

Type IV collagen

Question 3

Name the defect/deficiency and inheritance pattern, if applicable.

Ehlers-Danlos syndrome, classical

Answer 3

Type V + type I collagen; AD or AR

Question 4

Name the defect/deficiency and inheritance pattern, if applicable.

Ehlers-Danlos syndrome, vascular

Answer 4

Type III collagen; AD or AR

Question 5

Name the defect/deficiency and inheritance pattern, if applicable.

Menkes Disease

Answer 5

Decr Cu absorption and transport –> decr lysyl oxidase (collagen cross-linking)

Question 6

Name the defect/deficiency and inheritance pattern, if applicable.

Marfan Syndrome

Answer 6

Fibrillin-1; AD

Question 7

Name the defect/deficiency and inheritance pattern, if applicable.

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Answer 7

Mostly mut PKD1 (Chr 16), or PKD2 (Chr 4); AD

Question 8

Name the defect/deficiency and inheritance pattern, if applicable.

Familial Adenomatous Polyposis

Answer 8

Mut APC (Chr 5); AD

Question 9

Name the defect/deficiency and inheritance pattern, if applicable.

Familial hypercholesterolemia

Answer 9

Defective/absent LDL receptor; AD

Question 10

Name the defect/deficiency and inheritance pattern, if applicable.

Hereditary hemorrhagic telangiectasia

Answer 10

Disorder of blood vessels (aka Osler-Weber-Rendu Syndrome); AD

Question 11

Name the defect/deficiency and inheritance pattern, if applicable.

Hereditary spherocytosis

Answer 11

Spectrin/ankyrin; AD

Question 12

Name the defect/deficiency and inheritance pattern, if applicable.

Huntington Disease

Answer 12

CAG repeats in huntingtin gene on chr 4; AD

Question 13

Name the defect/deficiency and inheritance pattern, if applicable.

Neurofibromatosis Type 1 (von Recklinghausen)

Answer 13

NF1 gene (chr 17); AD

Question 14

Name the defect/deficiency and inheritance pattern, if applicable.

Neurofibromatosis Type 2

Answer 14

NF2 gene (chr 22); AD

Question 15

Name the defect/deficiency and inheritance pattern, if applicable.

Multiple Endocrine Neoplasia

Answer 15

MEN 2A and 2B associated with ret gene mutation; AD

Question 16

Name the defect/deficiency and inheritance pattern, if applicable.

Tuberous Sclerosis

Answer 16

Neurocutaneous disorder; AD

Question 17

Name the defect/deficiency and inheritance pattern, if applicable.

von Hippel-Lindau Disease

Answer 17

Del of VHL tumour suppressor (chr 3); AD

Question 18

Name the defect/deficiency and inheritance pattern, if applicable.

Cystic Fibrosis

Answer 18

CFTR (chr 7); AR

Question 19

Name the defect/deficiency and inheritance pattern, if applicable.

Duchenne Muscular Dystrophy

Answer 19

Dystrophin (frameshift); XR

Question 20

Name the defect/deficiency and inheritance pattern, if applicable.

Becker Muscular Dystrophy

Answer 20

Dystrophin (point); XR

Question 21

Name the defect/deficiency and inheritance pattern, if applicable.

Myotonic Type 1 Muscular Dystrophy

Answer 21

CTG repeats in DMPK gene

Question 22

Name the defect/deficiency and inheritance pattern, if applicable.

Fragile X Syndrome

Answer 22

FMR1 gene, XR

Question 23

Name the defect/deficiency and inheritance pattern, if applicable.

Down Syndrome

Answer 23

Trisomy 21

Question 24

Name the defect/deficiency and inheritance pattern, if applicable.

Edwards Syndrome

Answer 24

Trisomy 18

Question 25

# Name the defect/deficiency and inheritance pattern, if applicable. Patau Syndrome

Answer 25

Trisomy 13

Question 26

# Name the defect/deficiency and inheritance pattern, if applicable. Cri-du-chat Syndrome

Answer 26

Del in 5p

Question 27

# Name the defect/deficiency and inheritance pattern, if applicable. Williams Syndrome

Answer 27

Del in 7q

Question 28

# Name the defect/deficiency and inheritance pattern, if applicable. DiGeorge & Velocardiofacial Syndrome

Answer 28

Del in 22q11

Question 29

# Name the defect/deficiency and inheritance pattern, if applicable. Pyruvate dehydrogenase deficiency

Answer 29

Pyruvate dehydrogenase --> incr lactate + alanine

Question 30

# Name the defect/deficiency and inheritance pattern, if applicable. Chronic Granulomatous Disease

Answer 30

NADPH oxidase

Question 31

# Name the defect/deficiency and inheritance pattern, if applicable. G6PD Deficiency

Answer 31

G6PD; XR

Question 32

# Name the defect/deficiency and inheritance pattern, if applicable. Essential Fructosuria

Answer 32

Fructokinase --> incr fructose; AR

Question 33

# Name the defect/deficiency and inheritance pattern, if applicable. Fructose Intolerance

Answer 33

Aldolase B --> incr fructose-1-P; AR

Question 34

# Name the defect/deficiency and inheritance pattern, if applicable. Galactokinase Deficiency

Answer 34

Galactokinase --> incr galactitol; AR

Question 35

# Name the defect/deficiency and inheritance pattern, if applicable. Classic Galactosemia

Answer 35

Galactose-1-P uridyltransferase --> incr galactitol; AR

Question 36

# Name the defect/deficiency and inheritance pattern, if applicable. Lactase deficiency

Answer 36

Lactase --> incr H+ in gut

Question 37

# Name the defect/deficiency and inheritance pattern, if applicable. N-acetylglutamate deficiency

Answer 37

N-acetylglutamate --> hyperammonemia

Question 38

# Name the defect/deficiency and inheritance pattern, if applicable. Ornithine transcarbamylase (OTC) deficiency

Answer 38

OTC --> incr orotic acid, hyperammonemia; XR

Question 39

# Name the defect/deficiency and inheritance pattern, if applicable. Phenylketonuria

Answer 39

Phenylalanine hydroxylase or tetrahydrobiopterin cofactor --> incr phenylalanine; AR

Question 40

# Name the defect/deficiency and inheritance pattern, if applicable. Alkaptonuria

Answer 40

Homogentisate oxidase; AR

Question 41

# Name the defect/deficiency and inheritance pattern, if applicable. Homocystinuria

Answer 41

Cystathionin synthase or homocysteine methyltransferase (methionine synthase); AR

Question 42

# Name the defect/deficiency and inheritance pattern, if applicable. Cystinuria

Answer 42

Renal PCT & intestinal AA transporter for Cysteine, Ornithine, Lys, and Arg (COLA); AR

Question 43

# Name the defect/deficiency and inheritance pattern, if applicable. Maple Syrup Urine Disease

Answer 43

Alpha-ketoacid dehydrogenase (B1) --> incr branched amino acids (Ile, Le, Val); AR

Question 44

# Name the defect/deficiency and inheritance pattern, if applicable. Von Gierke Disease (Type I glycogen storage disease)

Answer 44

Glucose-6-phosphatase; AR

Question 45

# Name the defect/deficiency and inheritance pattern, if applicable. Pompe Disease (Type II glycogen storage disease)

Answer 45

Lysosomal alpha-1,4-glucosidase (acid maltase); AR

Question 46

# Name the defect/deficiency and inheritance pattern, if applicable. Cori Disease (Type III glycogen storage disease)

Answer 46

Debranching enzyme (alpha-1,6-glucosidase); AR

Question 47

# Name the defect/deficiency and inheritance pattern, if applicable. McArdle Disease (Type V glycogen storage disease)

Answer 47

Skeletal muscle glycogen phosphorylase (myophosphorylase); AR

Question 48

# Name the defect/deficiency and inheritance pattern, if applicable. Fabry Disease

Answer 48

Alpha-galactosidase A --> incr ceramide trihexosidase; XR

Question 49

# Name the defect/deficiency and inheritance pattern, if applicable. Gaucher Disease

Answer 49

Glucocerebrosidase (beta-glucosidase) --> incr glucocerebroside; AR

Question 50

# Name the defect/deficiency and inheritance pattern, if applicable. Niemann-Pick Disease

Answer 50

Sphingomyelinase --> incr sphingomyelin; AR

Question 51

# Name the defect/deficiency and inheritance pattern, if applicable. Tay-Sachs Disease

Answer 51

Hexosaminidase A --> incr GM2 ganglioside; AR

Question 52

# Name the defect/deficiency and inheritance pattern, if applicable. Krabbe Disease

Answer 52

Galactocerebrosidase --> incr galactocerebroside, psychosine; AR

Question 53

# Name the defect/deficiency and inheritance pattern, if applicable. Metachromic leukodystrophy

Answer 53

Arylsulfatase A --> incr cerebroside sulfate; AR

Question 54

# Name the defect/deficiency and inheritance pattern, if applicable. Hurler Syndrome

Answer 54

Alpha-L-iduronidase --> incr heparan sulfate, dermatan sulfate; AR

Question 55

# Name the defect/deficiency and inheritance pattern, if applicable. Hunter Syndrome

Answer 55

Iduronate sulfatase --> incr heparan sulfate, dermatan sulfate; XR

Question 56

# Name the defect/deficiency and inheritance pattern, if applicable. Hyperchylomicronemia (Type I familial dyslipidemia)

Answer 56

Lipoprotein lipase or altered Apo-C II --> incr chylomicrons, TC, cholesterol; AR

Question 57

# Name the defect/deficiency and inheritance pattern, if applicable. Hypertriglyceridemia (Type IV familial dyslipidemia)

Answer 57

Overproduction of VLDL; AD

Question 58

# Name the defect/deficiency and inheritance pattern, if applicable. Lesch-Nyhan Syndrome

Answer 58

HGPRT --> incr uric acid and de novo purine synthesis; XR

Question 59

# Name the defect/deficiency and inheritance pattern, if applicable. Adenosine deaminase deficiency

Answer 59

Increases ATP, causes negative feedback inhibition of ribonucleotide reductase, is a major cause of SCID; AR