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Pathophysiology > Inborn Metabolism (Exam 1) > Flashcards

Inborn Metabolism (Exam 1) Flashcards

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1
Q

pancreas

A

secretes insulin and glucagon in response to changes in blood glucose concentration

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2
Q

brain

A

transports ions to maintain membrane potential; integrates inputs from body and surroundings; sends signals to other organs

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3
Q

liver

A

processes fats, carbohydrates, proteins from diet, synthesizes and distributes lipids, ketone bodies, and glucose for other tissues; converts excess nitrogen to urea

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4
Q

portal vein

A

carries nutrients from intestines to liver

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5
Q

small intestine

A

absorbs nutrients from the diet, moves them into blood or lymphatic slides.

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6
Q

lymphatic system

A

carries lipids from intestine to liver

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7
Q

adipose tissue

A

synthesizes, stores, and mobilizes triacylglycerols

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8
Q

skeletal muscle

A

uses ATP to do mechanical work

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9
Q

what happens during strenuous exercise?

A

lactate builds up in the muscle

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10
Q

acidification of the muscle prevents what

A

continuous strenuous work

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11
Q

where is the lactase transported to?

A

liver and converted to glucose there

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12
Q

what does the cori cycle recycle?

A

NAD+ so glycolysis can continue

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13
Q

energy containing nutrients

A

carbohydrates, fats, proteins

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14
Q

energy depleted end products

A

CO2, H2O, NH3

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15
Q

cell macromolecules

A

proteins, polysaccharides, lipids, nucleic acid

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16
Q

precursor molecules

A

amnio acids, sugars, fatty acids, nitrogenous bases

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17
Q

muscle

A

ATP produced by glycolysis for rapid contraction

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18
Q

phsyiological significance of the cori cycle

A

prevents lactic acidosis in muscle under anaerobic conditions
production of ATP during muscle activity

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19
Q

hexokinase is for the

A

muscle and other tissues

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20
Q

glucose utilization

A

phosphorylation of glucose commits glucose for use by that cell

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21
Q

glucokinase is for the

A

liver

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22
Q

glucokinase has a high

A

Km and a high Vmax for glucose

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23
Q

a large accumulation of what is dangerous? what does it lead to?

A

ketone bodies
metabolic acidosis

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24
Q

in diabetes,

A

insulin does not function properly
glucose levels are insufficient for energy needs
fats are broken down to acetyl-CoA
ketogenesis produces ketone bodies

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25
inborn errors of metabolism
disorders in which single gene defects cause clinically significant blocks in metabolic pathways
26
pathology in metabolic disorders
from accumulation of enzyme substrate behind a metabolic block deficiency of a reaction product
27
first treatment strategy for metabolic disorders
enhance the reduced enzyme activity
28
absence of glucose 6 phosphate
key feature: seizure pathways affected: glycogen storage treatment: cornstarch, frequent feeding
29
muscle glycogen phosphorylase deficiency
key feature: muscle pain on exertion pathway affected: glycogen storage in muscle treatment: glucose plus decreased exertion
30
carnitine/acylcarnitine translocate deficiency
key feature: seizures pathway affected: mitochondrial import of fatty acids treatment: carnitine supplementation and feeding tube
31
mitochondrial HMG-CoA synthase deficiency
key feature: semi comatose, no ketones pathway affected: synthesizes ketone precursor treatment: frequent feeding
32
increase xanthine oxidase activity and ABCG2 deficiency
key feature: pain and swelling in the joints, usually in the big toe and foot pathway affected: chronic heterogenous disorder of urate metabolism treatment: allopurinol
33
PKU (phenylketonuria) patho
deficiency of the liver enzyme phenylalanine hydroxylase prevents normal metabolization of phenylalanine
34
phenylalanine
cannot be synthesized by the body and must therefore be consumed in protein rich foods
35
PKU disorder
autosomal recessive disorder caused by mutations in the PAH gene deficiency of the liver enzyme phenylalanine hydroxylate
36
what cannot be excreted from metabolism in PKU subjects
Phenylacetic acid goes to the brain
37
PKU treatment
strictly controlled phenylalanine free diet up to the age of 14 small doses must be supplied
38
why is PKU diet only up to 14 years of age?
after this age, growth and development of the brain is not affected by high levels of phenylalanine in the body
39
glycogen phosphorylase
breaks glycogen to make glucose every 4 glucose units from a branch point
40
coenzyme for glycogen phosphorylase
pyridoxal phosphate produces G1P
41
activation of glycogen synthase under
well fed state by G6P activation occurs in both liver and muscle
42
what effects glycogen to G1P conversion in the liver
glucose, ATP and G6P
43
what effects G1P to glycogen conversion in the liver
G6P
44
Glycogen phosphorylase deficiency
skeletal muscle, normal liver enzyme autosomal recessive leads to myoglobinemia and myoglobinuria
45
Glycogen phosphorylase deficiency effects
cramps upon exercise no rise in blood lactate after exercise
46
Newborn screening
neonates are screened for inborn errors of metabolism
47
How is newborn screening done?
most commonly, a capillary blood sample is taken by a heel prick and blotted onto absorbent paper
48
important consideration when discussing newborn screening
Newborns are not screened for all inborn errors of metabolism. Each state is different in the amount they screen for (NY = 57)
49
Human gene therapy
modifies the expression of a gene or to alter the biological properties of living cells for therapeutic use
50
most common gene therapy technique
place gene in a vector and introduce into an organism
51
issues with gene therapy
there is a lot of problems with delivery
52
how to control symptoms of common inborn errors
diet
53
symptoms of common inborn errors
developmental delays, weight loss, growth challenges, seizures, etc.
54
uric acid metabolism
end product of purine metabolism xanthine oxidase catalyzes hypoxanthine to xanthine and uric acid
55
hyperuricemia
excessive production or inadequate excretion
56
gout is the most common
form of inflammatory joint disease in men aged above 40 years old
57
gout
chronic heterogenous disorder or urate metabolism
58
result of gout
deposition of monosodium urate crystals in the joints and soft tissues, with accompanying inflammation and degenerative consequences
59
HMG-CoA synthase deficiency
autosomal recessive inherited disorder of ketone body metabolism episodes of decomposition (vomiting, lethargy, coma, etc)
60
HMG-CoA synthase deficiency, if untreated, can lead to
permanent brain damage and death
61
HMG-CoA pathways
forms ketone bodies through HMG-CoA lyase forms mevalonate for cholesterol synthesis through HMG-CoA reductase
62
HMG-CoA
formed in the liver cholesterol/ketone bodies
63
carnitine-acylcarnitine translocase deficiency most common and gene
most common is severe and happens in newborns caused by mutations in SLC25A20 gene
64
disorder carnitine-acylcarnitine translocase deficiency causes
fatty acid oxidation disorder issue in processing long chain fatty acids
65
Heinz bodies
clumps of damaged hemoglobin located on red blood cells cross linked hemoglobin
66
G6PD class 1
enzyme deficiency with chronic non-spherocytic hemolytic anemia
67
G6PD class 2
severe enzyme deficiency, less than 10% of normal activity
68
G6PD class 3
moderate to mild enzyme deficiency, 10-60% normal activity
69
G6PD class 4
very mild or no enzyme deficiency, at least 60% normal activity
70
clinical features pop G6PDH deficiency
neonatal jaundice and acute hemolytic anemia presence of Heinz bodies
71
what is diagnostic for G6PDH deficiency
presence of Heinz bodies
72
What is responsible for gout?
dysfunctional ABCG2
73
Allopurinol
inhibits xanthine oxidase blocks the conversion of uric acid
74
overexertion
excessive production: high serum uric acid and urine uric acid
75
underexcretion
inadequate secretion: high serum uric acid, normal/low urine uric acid
76
Two isoforms of G6PD
545 aa - inactive 515 aa
77
Ketoneogenesis
when glycogen stores are depleted such as during fasting and in undiagnosed diabetics
78
Diabetics have high levels of
acetone in their blood --> fruity odor of breath
79
large accumulation of ketone bodies leads to
profound metabolic acidosis
80
Psychiologic ketogenesis of fasting and the adaptive ketosis in starvation
never progress to life threatening acidosis
81
acetoacetate decarboxylase
forms acetone by enzymatic cleavage of acetoacetate
82
PKU disorder prevents
normal metabolism of phenylalanine --> tyrosine (and BH4 cofactor)
83
PKU results in
accumulation of phenylalanine
84
untreated individuals with PKU give off a
musty odor and they excrete large amounts of phenylalanine in their urine
85
Phenylalanine build up in the body to toxic levels
causes mental retardation converted to phenyl acetic acid
86
what are foods with high levels of phenylalanine
meat, fish, eggs, cheese, milk products legumes and bread
87
if not diagnosed early,
the individual will suffer severe and irreversible brain damage

Pathophysiology (18 decks)

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