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Block 2 Flashcards

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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
what are the symptoms of Wernicke syndrome
ataxia confusion opthalmoplegia
26
in what types of patients is Wernicke syndrome most common
alcoholics malnurished
27
what are the symptoms of glucose 6-phosphate dehydrogenase deficiency
hemolytic anemia jaundice
28
in what type of cells is G6PD deficiency most severe
RBC
29
what is the advantage of G6PD deficiency
protection against malaria
30
when is hereditary fructose intolerance evident
when baby is weaned from milk and starts consuming foods with fructose
31
when is galactokinase deficiency evident
days after birth with consumption of milk
32
what is leukocyte adhesion deficiency
loss of glycosylation on leukocyte surface proteins leads to absence of leukocytes from infection sites
33
how does Oselamivir (Tamiflu) work
it's an analog of sialic acid which competitively inhibits viral HA and NA interaction with host cell, inhibiting viral infection and spread
34
what causes I cell disease
absence of mannose 6-phosphate leads to no lysosomal enzymes so there is a buildup of waste in the lysosomes (I cells)
35
what is the clinical presentation for I cell disease
elevated levels of acid hydrolases in blood corneal clouding gum hypoplasia stiff joints
36
what causes osteoarthritis
depletion of aggrecan (PRG1) or lubricin (PRG4)--> loss of type II collagen--> loose painful joints
37
what is the enzyme that triggers osteoarthritis
matrix metalloprotease
38
what is the genetic deficiency that causes osteoarthritis
lubricin (PRG4)
39
what is the enzyme deficiency in Hunter syndrome
iduronate sulfatase
40
what is the enzyme deficiency in Hurler syndrome
L-iduronidase
41
what are the symptoms of Hunter syndrome
aggressive behavior, pearly skin lesions, no corneal clouding
42
what are the symptoms of Hurler syndrome (gargoylism)
corneal clouding, macroglossia, coarse facial features, skeletal abnormalities, mental retardation
43
HMG CoA lyase deficiency leads to absence of what
ketone bodies *HMG CoA lyase produces ketones during the breakdown of fat
44
primary carnitine deficiency defect
carnitine transporter
45
carnitine deficiencies cause an increase in
long chain fatty acids dicarboxylic acids *carnitine transports long chain fatty acids into the mitochondria to be oxidized to produce ATP
46
carnitine deficiencies cause a decrease in __ and causes __
ketone bodies hypoglycemia *fatty acids are unable to be used to produce glucose
47
secondary carnitine deficiency is due to defect in what
enzymes of carnitine shuttle pathway
48
how to identify carnitine acyltransferase I deficiency based on fasting plasma levels
high free carnitine low acyl carnitine *CAT-I converts long-chain acyl-CoA species to their corresponding long-chain acyl-carnitines
49
how to identify carnitine acyltransferase II deficiency based on fasting plasma levels
normal free carnitine level high acyl carnitine levels
50
how to identify primary carnitine deficiency based on fasting plasma levels
no free carnitine no acyl carnitine
51
Jamaican vomiting sickness is due to inhibition of what enzyme in what pathway
acyl-CoA dehydrogenase beta oxidation of fatty acids
52
Jamaincan vomiting sickness interferes with what aspect of lipolysis
carnitine shuttle (long chain fatty acids will be in cytosol, absent in mitochondria)
53
what is the result of medium chain acyl CoA dehydrogenase deficiency
increase in medium chain fatty acids and dicarboxylic acids in blood and tissue
54
what causes Zellweger syndrome
absence of peroxisomes
55
what is the result of absence of peroxisomes as seen in Zellweger syndrome
increase in very long chain and branched fatty acids (ex: phytanic acid)
56
what is the main symptom of Zellweger syndrome
neuron demyelination
57
what is deficiency in Refsum disease what pathway is affected
phytanic acid hydroxylase alpha oxidation of phytanic acid in peroxisomes
58
what is the result of phytanic acid hydrolase deficiency as seen in Refsum disease
buildup of phytanic acid
59
what are the symptoms of Refsum disease
vision loss, anosmia, bone abnormalities
60
adrenoleukodystrophy caused by a mutation in peroxisome transporter leads to accumulation of what
very long chain fatty acids in the cytosol (decreased oxidation)
61
abetalipoproteinemia deficiency
MTTP (no chylomicrons, VLDL, or LDL)
62
what is the elevated lipid in type I familial hyperlipidemia
triglycerides
63
what is the elevated lipoprotein in type I familial hyperlipidemia
chylomicrons
64
what is the defect in type I familial hyperlipidemia
lipoprotein lipase or ApoCII
65
what are the symptoms of type I familial hyperlipidemia
upper abdominal pain pancreatitis steatosis red papules
66
what is the elevated lipid in type II familial hyperlipidemia
cholesterol
67
what is the elevated lipoprotein in type II familial hyperlipidemia
LDL
68
what is the defect in type II familial hyperlipidemia
LDL-R or ApoB100
69
what are the symptoms of type II familial hyperlipidemia
chest pain atherosclerosis hypertension tendon xanthelasma
70
what is the elevated lipid in type III familial hyperlipidemia
very high cholesterol high triglycerides
71
what is the elevated lipiprotein in type III familial hyperlipidemia
LDL and VLDL remnants
72
what is the defect in type II familial hyperlipidemia
LDL-R
73
what are the symptoms of type III familial hyperlipidemia
chest pain atherosclerosis hypertension abdominal pain pancreatitis steatosis palmar xanthelasma
74
what is the elevated lipid in type IV familial hyperlipidemia
very high triglycerides high cholesterol
75
what is the elevated lipoprotein in type IV familial hyperlipidemia
VLDL
76
what is the defect in type IV familial hyperlipidemia
high VLDL low LDL
77
what are the symptoms of type IV familial hyperlipidemia
abdominal pain pancreatitis steatosis atherosclerosis chest pain red papules
78
Tangier disease defect
ABCA1 deficiency
79
Tangier disease plasma levels
very low HDL and ApoA1
80
Tangier disease symptoms
orange tonsils lymphadenopathy premature atherosclerosis enlarged foam cells
81
Hypoalphalipoproteinemia deficiency
ApoA1
82
Hypoalphalipoproteinemia plasma levels
very low HDL high free cholesterol
83
Hypoalphalipoproteinemia symptoms
cloudy corneas xanthomas premature atherosclerosis
84
Fish eye disease deficiency
LCAT
85
Fish eye disease plasma levels
low cholesterol esters and lysolecithin high free cholesterol in LDL and VLDL
86
Fish eye disease symptoms
progressive corneal opacification progressive atherosclerosis
87
what causes Staphylococcal Scalded Skin Syndrome (SSSS or Ritter's disease)
exfoliative toxins A and B cleave desmoglein 1 of top layer of epidermis
88
what is deficient in Niemann Pick disease
sphingomyelinase
89
what is the effect of sphingomyelinase deficiency as seen in Niemann Pick disease
increase of sphingomyelin lipids in lysosomes, forming foam cells
90
what are the symptoms of Niemann Pick disease
hepatomegaly retinopathy (cherry red spot) foam cells in spleen, liver, and bone marrow
91
what is the enzyme deficiency in Tay Sachs disease
hexosaminidase A
92
what is the effect of hexosaminidase A deficiency as seen in Tay Sachs disease
GM2 ganglioside accumulates
93
what is the enzyme deficiency of Gaucher's disease
glucocerebrosidase
94
what is he effect of beta glucosidase deficiency as seen in Gaucher's disease
accumulation of Glc-ceramide
95
what enzyme deficiency causes GM 1 gangliosidosis
beta galactosidase
96
what is the effect of beta galactosidase deficiency as seen in GM1 gangliosidosis
accumulation of G1 gangliosides and keratan sulfates
97
what are the symptoms of Tay Sachs disease
blindness seizure GM2 gangliosides in urine exaggerated startle response to sounds no hepatosplenomegaly
98
what enzyme deficiency causes Sandhoff disease
HEX A or B
99
what are the symptoms of Sandhoff disease
hepatosplenomegaly
100
what enzyme deficiency causes Fabry's disease
alpha galactosidase A (GalA)
101
what accumulates as a result of alpha-galactosidase A as seen in Fabry's disease
ceramide trihexosides (globosides)
102
what are the symptom of Fabry's disease
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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