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Clinical Correlates > Block 2 > Flashcards

Block 2 Flashcards

1
Q

Von Gierke’s disease enzyme deficiency

A

glucose 6-phosphatase

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2
Q

Von Gierke’s disease presentation

A

hypoglycemia
hyperuricemia
lactic acidosis
hyperlipidemia
hepatomegaly

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3
Q

when is Von Gierke’s disease evident

A

at 6-9 months with weaning (increase in feeding schedule)

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4
Q

what is the treatment for Von Gierke’s disease

A

increase oral glucose throughout the day

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5
Q

what enzyme is deficient in Pompe’s disease

A

lysosomal alpha 1,4-glucosidase

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6
Q

what are the symptoms of Pompe’s disease

A

muscle hypotonia
cardiomegaly (death by age 2)

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7
Q

what is the difference between juvenile and adult onset of Pompe’s disease

A

juvenile- complete deficiency
adult- not complete deficiency

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8
Q

what are the symptoms of galactokinase deficiency

A

galactosuria
cataracts

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9
Q

what enzyme is deficient in classic galactosemia

A

galactose 1-phosphate uridyltransferase

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10
Q

what are the symptoms of classic galactosemia

A

cataracts
galactosuria
failure to thrive
liver dysfunction

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11
Q

what is the treatment for galactosemia

A

remove galactose and lactose from the diet
use soy milk as an alternative

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12
Q

what enzyme is deficient in essential fructosuria

A

fructokinase

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13
Q

what are the features of fructosuria

A

clinically benign due to no buildup of fructose
free glucose is used by hexokinase or excreted in the urine

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14
Q

what enzyme is deficient in hereditary fructose intolerance

A

aldolase B

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15
Q

what are the symptoms of hereditary fructose intolerance

A

fructose in blood
fructosuria
severe hypoglycemia after fructose ingestion
lethargy (lower Pi=low ATP)

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16
Q

what is the treatment for hereditary fructose intolerance

A

remove fructose and sucrose from diet

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17
Q

what is the deficiency in Cori disease/Forbe’s disease/limit dextrinosis

A

debranching enzyme

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18
Q

what are the features of Cori disease

A

accumulation of limit dextrins (short outer branches and single glucose residue at branches)
mild hypoglycemia

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19
Q

what is the deficiency in Andersen’s disease

A

branching enzyme

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20
Q

what is the deficiency in McArdle’s disease

A

myophosphorylase (muscle glycogen phosphorylase)

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21
Q

what are the symptoms of McArdle’s disease

A

muscle cramps and aches with exercise
myoglobinuria
no increase in lactate after exercise
increase in creatine kinase and aldolase from muscle

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22
Q

what is the deficiency in Her’s disease

A

liver glycogen phosphorylase

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23
Q

what is the deficiency in Wernicke syndrome

A

thiamine (vitamin B1)

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24
Q

what are the symptoms of Wernicke syndrome

A

ataxia
confusion

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25
Q

what are the symptoms of Wernicke syndrome

A

ataxia
confusion
opthalmoplegia

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26
Q

in what types of patients is Wernicke syndrome most common

A

alcoholics
malnurished

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27
Q

what are the symptoms of glucose 6-phosphate dehydrogenase deficiency

A

hemolytic anemia
jaundice

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28
Q

in what type of cells is G6PD deficiency most severe

A

RBC

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29
Q

what is the advantage of G6PD deficiency

A

protection against malaria

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30
Q

when is hereditary fructose intolerance evident

A

when baby is weaned from milk and starts consuming foods with fructose

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31
Q

when is galactokinase deficiency evident

A

days after birth with consumption of milk

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32
Q

what is leukocyte adhesion deficiency

A

loss of glycosylation on leukocyte surface proteins leads to absence of leukocytes from infection sites

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33
Q

how does Oselamivir (Tamiflu) work

A

it’s an analog of sialic acid which competitively inhibits viral HA and NA interaction with host cell, inhibiting viral infection and spread

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34
Q

what causes I cell disease

A

absence of mannose 6-phosphate leads to no lysosomal enzymes so there is a buildup of waste in the lysosomes (I cells)

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35
Q

what is the clinical presentation for I cell disease

A

elevated levels of acid hydrolases in blood
corneal clouding
gum hypoplasia
stiff joints

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36
Q

what causes osteoarthritis

A

depletion of aggrecan (PRG1) or lubricin (PRG4)–> loss of type II collagen–> loose painful joints

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37
Q

what is the enzyme that triggers osteoarthritis

A

matrix metalloprotease

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38
Q

what is the genetic deficiency that causes osteoarthritis

A

lubricin (PRG4)

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39
Q

what is the enzyme deficiency in Hunter syndrome

A

iduronate sulfatase

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40
Q

what is the enzyme deficiency in Hurler syndrome

A

L-iduronidase

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41
Q

what are the symptoms of Hunter syndrome

A

aggressive behavior, pearly skin lesions, no corneal clouding

42
Q

what are the symptoms of Hurler syndrome (gargoylism)

A

corneal clouding, macroglossia, coarse facial features, skeletal abnormalities, mental retardation

43
Q

HMG CoA lyase deficiency leads to absence of what

A

ketone bodies
*HMG CoA lyase produces ketones during the breakdown of fat

44
Q

primary carnitine deficiency defect

A

carnitine transporter

45
Q

carnitine deficiencies cause an increase in

A

long chain fatty acids
dicarboxylic acids
*carnitine transports long chain fatty acids into the mitochondria to be oxidized to produce ATP

46
Q

carnitine deficiencies cause a decrease in __ and causes __

A

ketone bodies
hypoglycemia
*fatty acids are unable to be used to produce glucose

47
Q

secondary carnitine deficiency is due to defect in what

A

enzymes of carnitine shuttle pathway

48
Q

how to identify carnitine acyltransferase I deficiency based on fasting plasma levels

A

high free carnitine
low acyl carnitine
*CAT-I converts long-chain acyl-CoA species to their corresponding long-chain acyl-carnitines

49
Q

how to identify carnitine acyltransferase II deficiency based on fasting plasma levels

A

normal free carnitine level
high acyl carnitine levels

50
Q

how to identify primary carnitine deficiency based on fasting plasma levels

A

no free carnitine
no acyl carnitine

51
Q

Jamaican vomiting sickness is due to inhibition of what enzyme in what pathway

A

acyl-CoA dehydrogenase
beta oxidation of fatty acids

52
Q

Jamaincan vomiting sickness interferes with what aspect of lipolysis

A

carnitine shuttle (long chain fatty acids will be in cytosol, absent in mitochondria)

53
Q

what is the result of medium chain acyl CoA dehydrogenase deficiency

A

increase in medium chain fatty acids and dicarboxylic acids in blood and tissue

54
Q

what causes Zellweger syndrome

A

absence of peroxisomes

55
Q

what is the result of absence of peroxisomes as seen in Zellweger syndrome

A

increase in very long chain and branched fatty acids (ex: phytanic acid)

56
Q

what is the main symptom of Zellweger syndrome

A

neuron demyelination

57
Q

what is deficiency in Refsum disease
what pathway is affected

A

phytanic acid hydroxylase
alpha oxidation of phytanic acid in peroxisomes

58
Q

what is the result of phytanic acid hydrolase deficiency as seen in Refsum disease

A

buildup of phytanic acid

59
Q

what are the symptoms of Refsum disease

A

vision loss, anosmia, bone abnormalities

60
Q

adrenoleukodystrophy caused by a mutation in peroxisome transporter leads to accumulation of what

A

very long chain fatty acids in the cytosol (decreased oxidation)

61
Q

abetalipoproteinemia deficiency

A

MTTP (no chylomicrons, VLDL, or LDL)

62
Q

what is the elevated lipid in type I familial hyperlipidemia

A

triglycerides

63
Q

what is the elevated lipoprotein in type I familial hyperlipidemia

A

chylomicrons

64
Q

what is the defect in type I familial hyperlipidemia

A

lipoprotein lipase or ApoCII

65
Q

what are the symptoms of type I familial hyperlipidemia

A

upper abdominal pain
pancreatitis
steatosis
red papules

66
Q

what is the elevated lipid in type II familial hyperlipidemia

A

cholesterol

67
Q

what is the elevated lipoprotein in type II familial hyperlipidemia

A

LDL

68
Q

what is the defect in type II familial hyperlipidemia

A

LDL-R or ApoB100

69
Q

what are the symptoms of type II familial hyperlipidemia

A

chest pain
atherosclerosis
hypertension
tendon xanthelasma

70
Q

what is the elevated lipid in type III familial hyperlipidemia

A

very high cholesterol
high triglycerides

71
Q

what is the elevated lipiprotein in type III familial hyperlipidemia

A

LDL and VLDL remnants

72
Q

what is the defect in type II familial hyperlipidemia

A

LDL-R

73
Q

what are the symptoms of type III familial hyperlipidemia

A

chest pain
atherosclerosis
hypertension
abdominal pain
pancreatitis
steatosis
palmar xanthelasma

74
Q

what is the elevated lipid in type IV familial hyperlipidemia

A

very high triglycerides
high cholesterol

75
Q

what is the elevated lipoprotein in type IV familial hyperlipidemia

A

VLDL

76
Q

what is the defect in type IV familial hyperlipidemia

A

high VLDL
low LDL

77
Q

what are the symptoms of type IV familial hyperlipidemia

A

abdominal pain
pancreatitis
steatosis
atherosclerosis
chest pain
red papules

78
Q

Tangier disease defect

A

ABCA1 deficiency

79
Q

Tangier disease plasma levels

A

very low HDL and ApoA1

80
Q

Tangier disease symptoms

A

orange tonsils
lymphadenopathy
premature atherosclerosis
enlarged foam cells

81
Q

Hypoalphalipoproteinemia deficiency

A

ApoA1

82
Q

Hypoalphalipoproteinemia plasma levels

A

very low HDL
high free cholesterol

83
Q

Hypoalphalipoproteinemia symptoms

A

cloudy corneas
xanthomas
premature atherosclerosis

84
Q

Fish eye disease deficiency

A

LCAT

85
Q

Fish eye disease plasma levels

A

low cholesterol esters and lysolecithin
high free cholesterol in LDL and VLDL

86
Q

Fish eye disease symptoms

A

progressive corneal opacification
progressive atherosclerosis

87
Q

what causes Staphylococcal Scalded Skin Syndrome (SSSS or Ritter’s disease)

A

exfoliative toxins A and B cleave desmoglein 1 of top layer of epidermis

88
Q

what is deficient in Niemann Pick disease

A

sphingomyelinase

89
Q

what is the effect of sphingomyelinase deficiency as seen in Niemann Pick disease

A

increase of sphingomyelin lipids in lysosomes, forming foam cells

90
Q

what are the symptoms of Niemann Pick disease

A

hepatomegaly
retinopathy (cherry red spot)
foam cells in spleen, liver, and bone marrow

91
Q

what is the enzyme deficiency in Tay Sachs disease

A

hexosaminidase A

92
Q

what is the effect of hexosaminidase A deficiency as seen in Tay Sachs disease

A

GM2 ganglioside accumulates

93
Q

what is the enzyme deficiency of Gaucher’s disease

A

glucocerebrosidase

94
Q

what is he effect of beta glucosidase deficiency as seen in Gaucher’s disease

A

accumulation of Glc-ceramide

95
Q

what enzyme deficiency causes GM 1 gangliosidosis

A

beta galactosidase

96
Q

what is the effect of beta galactosidase deficiency as seen in GM1 gangliosidosis

A

accumulation of G1 gangliosides and keratan sulfates

97
Q

what are the symptoms of Tay Sachs disease

A

blindness
seizure
GM2 gangliosides in urine
exaggerated startle response to sounds
no hepatosplenomegaly

98
Q

what enzyme deficiency causes Sandhoff disease

A

HEX A or B

99
Q

what are the symptoms of Sandhoff disease

A

hepatosplenomegaly

100
Q

what enzyme deficiency causes Fabry’s disease

A

alpha galactosidase A (GalA)

101
Q

what accumulates as a result of alpha-galactosidase A as seen in Fabry’s disease

A

ceramide trihexosides (globosides)

102
Q

what are the symptom of Fabry’s disease

A

enlarged vital organs (heart, liver, kidney, etc.)
red colored papules (angiokeratomas)
painful tingling and burning in hands and feet

Clinical Correlates (2 decks)

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