CLINICAL CORRELATES Flashcards

0
Q

synthesis of alpha chains is decreased or absent

A

alpha thalassemia

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1
Q

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

A

Sickle cell anemia

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2
Q

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

A

hereditary spherocytosis

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3
Q

blue sclera, multiple fractures, conductive hearing loss

A

osteogenesis imperfecta

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4
Q

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

A

Ehlers-Danlos syndrome

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5
Q

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

A

Scurvy

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6
Q

hereditary nephritis with sensorineural hearing loss

A

Alports syndrome

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7
Q

aortic dilatation, dolichostenomelia, arachnodactyly

A

Marfan’s Syndrome

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8
Q

panacinar emphysema and liver failure

A

Alpha 1 Antitrypsin deficiency

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9
Q

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

A

wilsons disease

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10
Q

musty body odor mental retardation, fair skin, eczema

A

Phenylketonuria

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11
Q

urine turns black upon standing associated with debilitating arthralgias

A

Alkaptonuria

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12
Q

decreased pigmentation that increases the risk for skin cancer

A

Albinism

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13
Q

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

A

Homocystenuria

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14
Q

staghorn calculi due to inherited renal tubular amino acid transporter

A

Cystinuria

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15
Q

mental retardation from blocked degradation of branched amino acids

A

MSUD

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16
Q

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

A

Porphyrias

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17
Q

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

A

Kwashiorkor

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18
Q

caloric deprivation is relatively greater than the reduction in protein

A

Marasmus

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19
Q

alcohol leads to fat accumulation in the liver

A

FATTY LIVER

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20
Q

Cerebrohepatorenal syndrome

A

ZELLWEGERS SYNDROME

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21
Q

Accumulation of phytanic acid

A

REFSUM DISEASE

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22
Q

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

A

JAMAICAN VOMITING SICKNESS

23
Q

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

A

TYPE 1 HYPERTRIGLYCERIDEMIA genetic absence of lipoprotein lipase

24
Q

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

A

TYPE II HYPERCHOLESTEROLEMIA

LDL RECEPTOR DEFICIENCY

25
Q

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

A

ABETALIPOPROTEINEMIA

26
Q

mental retardation feom accumulation of GM2 ganglioside

A

TAY SACH DISEASE

27
Q

Mental retardation from accumulation of sphingomyelin

A

NIEMANN PICK DISEASE

28
Q

Mental retardation, enlarged liver and spleen from accumulation of glucosylceramide

A

Gauchers disease

29
Q

inability to repair thymine dimers

A

Xeroderma pigmentosum

30
Q

inability to repair mismatched strands

A

Hereditary nonpolyposis colon cancer

31
Q

trinucleotide repeats

A

Huntington disease

32
Q

point mutation missense

A

Sickle cell disease

33
Q

acute arthritis with deposition of uric acid crystals

A

Gout

34
Q

Gout and self mutilation

A

Lesch Nyhan syndrome

35
Q

severe combined immunodeficiency

A

SIDS

36
Q

abnormal growth
megaloblastic anemia
orotate in urine

A

Orotic aciduria

37
Q

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

A

CHRONIC GRANULOMATOUS DISEASE

38
Q

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

A

Homocystinuria

39
Q

deficiency of phenylalanine hydroxylase

A

Phenylketonuria

40
Q

deficiency of homogentisate peroxidase causes darkened urine when standing

A

alkaptonuria

41
Q

deficiency of glucose 6 phosphatase. hepatomegaly is seen

A

Von gierke’s Type 1

42
Q

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

A

Type II POMPE’s

43
Q

deficiency if debranching enzyme amylo 1-6 glucosidase

A

Cori’s disease

44
Q

LDL receptors mutated

increased cholesterol

A

Familial hypercholesterolemia

45
Q

deficiency of lipoprotein lipase

increase chylomicron TG

A

Familial lipoprotein lipase deficiency

46
Q

defective HDL synthesis
increased in cholesterol
decreased HDL level

A

Tangier’s Disease

47
Q

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

A

Carnitine deficiency

48
Q

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

A

Medium chain fatty acyl-coA dehydrogenase (MCAD) deficiency

49
Q

treatment for MCAS

A

IV glucose

50
Q

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

A

Jamaican Vomiting sickness

51
Q

Hexosaminidase A deficiency

A

Tay sachs disease

52
Q

Enzyme deficient in Fabry’s disease

A

Alpha galactosidase

53
Q

Enzyme deficient in Farber’s disease

A

Ceramidase

54
Q

Enzyme deficient in Niemann Pick disease

A

Sphingomyelinase