CLINICAL CORRELATES

Question 0

synthesis of alpha chains is decreased or absent

Answer 0

alpha thalassemia

Question 1

glutamate is replaced by valine at position 6 of B globin chain causing hemoglobin that polymerizes inside the RBC

Answer 1

Sickle cell anemia

Question 2

spectrin deficiency causes spherical RBCs that are rapidly culled by the spleen

Answer 2

hereditary spherocytosis

Question 3

blue sclera, multiple fractures, conductive hearing loss

Answer 3

osteogenesis imperfecta

Question 4

berry aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed

Answer 4

Ehlers-Danlos syndrome

Question 5

loose teeth, sore spongy gums, poor wound healing, petechiae on skin and mucous membranes

Answer 5

Scurvy

Question 6

hereditary nephritis with sensorineural hearing loss

Answer 6

Alports syndrome

Question 7

aortic dilatation, dolichostenomelia, arachnodactyly

Answer 7

Marfan’s Syndrome

Question 8

panacinar emphysema and liver failure

Answer 8

Alpha 1 Antitrypsin deficiency

Question 9

hepatolenticular degeneration from accumulation of copper in tissues with low levels of ceruloplasmin

Answer 9

wilsons disease

Question 10

musty body odor mental retardation, fair skin, eczema

Answer 10

Phenylketonuria

Question 11

urine turns black upon standing associated with debilitating arthralgias

Answer 11

Alkaptonuria

Question 12

decreased pigmentation that increases the risk for skin cancer

Answer 12

Albinism

Question 13

atherosclerosis, lens subluxation, stroke, MI, osteoporosis, tall stature

Answer 13

Homocystenuria

Question 14

staghorn calculi due to inherited renal tubular amino acid transporter

Answer 14

Cystinuria

Question 15

mental retardation from blocked degradation of branched amino acids

Answer 15

MSUD

Question 16

photosensitivity, chronic inflammation to overt blistering and shearing in exposed areas of the skin due to defects in heme synthesis

Answer 16

Porphyrias

Question 17

protein deprivation that is relatively greater than the reduction in total calories

Answer 17

Kwashiorkor

Question 18

caloric deprivation is relatively greater than the reduction in protein

Answer 18

Marasmus

Question 19

alcohol leads to fat accumulation in the liver

Answer 19

FATTY LIVER

Question 20

Cerebrohepatorenal syndrome

Answer 20

ZELLWEGERS SYNDROME

Question 21

Accumulation of phytanic acid

Answer 21

REFSUM DISEASE

Question 22

Hypoglycin from unripe fruit of the akee tree inactivates medium and short chain acyl CoA dehydrogenase

Answer 22

JAMAICAN VOMITING SICKNESS

Question 23

Excess TAGs and chylomicrons in blood leads to deposition in liver, skin and pancreas

Answer 23

TYPE 1 HYPERTRIGLYCERIDEMIA genetic absence of lipoprotein lipase

Question 24

Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease

Answer 24

TYPE II HYPERCHOLESTEROLEMIA | LDL RECEPTOR DEFICIENCY

Question 25

Accumulation of fat in intestinal enterocytes and hepatocytes with deficiency in fat soluble vitamins and essential fatty acids

Answer 25

ABETALIPOPROTEINEMIA

Question 26

mental retardation feom accumulation of GM2 ganglioside

Answer 26

TAY SACH DISEASE

Question 27

Mental retardation from accumulation of sphingomyelin

Answer 27

NIEMANN PICK DISEASE

Question 28

Mental retardation, enlarged liver and spleen from accumulation of glucosylceramide

Answer 28

Gauchers disease

Question 29

inability to repair thymine dimers

Answer 29

Xeroderma pigmentosum

Question 30

inability to repair mismatched strands

Answer 30

Hereditary nonpolyposis colon cancer

Question 31

trinucleotide repeats

Answer 31

Huntington disease

Question 32

point mutation missense

Answer 32

Sickle cell disease

Question 33

acute arthritis with deposition of uric acid crystals

Answer 33

Gout

Question 34

Gout and self mutilation

Answer 34

Lesch Nyhan syndrome

Question 35

severe combined immunodeficiency

Answer 35

SIDS

Question 36

abnormal growth megaloblastic anemia orotate in urine

Answer 36

Orotic aciduria

Question 37

deficiency of NADPH oxidase resulting in chronic pyogenic infections since there is no respiratory burst

Answer 37

CHRONIC GRANULOMATOUS DISEASE

Question 38

increased urine levels of homocystine. May treat with dietary Vitamin B6 and cysteine

Answer 38

Homocystinuria

Question 39

deficiency of phenylalanine hydroxylase

Answer 39

Phenylketonuria

Question 40

deficiency of homogentisate peroxidase causes darkened urine when standing

Answer 40

alkaptonuria

Question 41

deficiency of glucose 6 phosphatase. hepatomegaly is seen

Answer 41

Von gierke's Type 1

Question 42

deficiency of alpha 1-4 glucosidase and lysosomal acid maltase, cardiomegaly, restrictive cardiomyopathy occurs as the heart stores glycogen

Answer 42

Type II POMPE's

Question 43

deficiency if debranching enzyme amylo 1-6 glucosidase

Answer 43

Cori's disease

Question 44

LDL receptors mutated | increased cholesterol

Answer 44

Familial hypercholesterolemia

Question 45

deficiency of lipoprotein lipase | increase chylomicron TG

Answer 45

Familial lipoprotein lipase deficiency

Question 46

defective HDL synthesis increased in cholesterol decreased HDL level

Answer 46

Tangier's Disease

Question 47

can occur in the newbirn and manifest as hypoglycemia from impairedfatty acid ixidation and muscle weakness tx: carnitine supplementation

Answer 47

Carnitine deficiency

Question 48

decreased fatty acud oxidation during fasting hypoglycemia can become profound due to lack of ATP to support gluconeogenesis infants particularly susceptible and can manifest as SIDS

Answer 48

Medium chain fatty acyl-coA dehydrogenase (MCAD) deficiency

Question 49

treatment for MCAS

Answer 49

IV glucose

Question 50

caused by eating unripefruit of the akee tree which contains HYPOGLYCIN a toxin that inactivates medium and short chain acyl-coA dehydrogenase and leads to hypoglycemia

Answer 50

Jamaican Vomiting sickness

Question 51

Hexosaminidase A deficiency

Answer 51

Tay sachs disease

Question 52

Enzyme deficient in Fabry's disease

Answer 52

Alpha galactosidase

Question 53

Enzyme deficient in Farber's disease

Answer 53

Ceramidase

Question 54

Enzyme deficient in Niemann Pick disease

Answer 54

Sphingomyelinase