Metabolic Disorders Flashcards

(64 cards)

1
Q

vitamin B1

A

thiamine

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2
Q

vitamin B1 deficiency

A

Wernicke-Korsakoff syndrome (WKS)

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3
Q

Wernicke-Korsakoff syndrome (WKS)

A
  • is a combination of oculomotor abnormalities and mental symptoms
  • confusion and loss of mental activity that can progress to coma and death
  • loss of muscle coordination (ataxia) that can cause leg tremor
  • vision changes such as abnormal eye movements (back and forth movements called nystagmus), double vision, eyelid drooping
  • alcohol withdrawal
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4
Q

ophthalmoplegia

A

paralysis or weakness of the eye muscles

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5
Q

the active form of thiamin that is required for oxidative metabolism of pyruvate for ATP production

A

thiamine pyrophosphate

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6
Q

alcohol relationship with vitamin

A

impairs absorption

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7
Q

occurs in cases of intestinal malabsorption such as cystic fibrosis, congenital biliary atresia, intestinal resection, and abetalipoproteinemia

A

vitamin E deficiency

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8
Q

an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet

A

abetalipoproteinemia

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9
Q

a sensory peripheral neuropathy, ataxia, retinitis pigmentosa, and skeletal and cardiac myopathy, loss of dorsal ganglionic neurons with degeneration of their peripheral and central axons

A

symptoms of vitamin E deficiency

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10
Q

neurodegenerative effects of vitamin E deficiency are due to

A

loss of the anti-oxidant action of alpha tocopherol

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11
Q

vitamin B12

A

cobalamin

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12
Q

main dietary source of cobalamin

A

meat and dairy

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13
Q

in the stomach vitamin b 12 aka cobalamin is bound to

A

glycoprotein called intrinsic factor produced by parietal cells

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14
Q

cobalamin-intrinsic factor complex is transported to the

A

terminal ileum

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15
Q

produces hematologic abnormalities and neurologic complications (subacute combined degeneration of the spinal cord-SCD).

A

vitamin B12 deficiency

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16
Q

plays a role in the expression of tumor necrosis factor alpha (TNF-α) and epidermal growth factor (EGF)

A

cobalamin

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17
Q

In cobalamin deficiency TNF-α is ?-regulated and EGF

?-regulated.

A
TNF-a = unregulated 
EGF = down regulated
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18
Q

are unable to pass the blood–brain barrier

A

lipids

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19
Q

reduces the breakdown of muscle protein that maintains gluconeogenesis in the liver during starvation

A

cns use of ketone bodies

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20
Q

ketone body used by the brain is

A

hydroxybutyrate

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21
Q

hypoglycaemia blood glucose levels under

A

40 mg / dl

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22
Q

leads to neuronal necrosis in pyramidal cell layers of cortex and hippocampus

A

hyperinsulinemia

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23
Q

brain uses how much of the oxygen supply of the body

A

20%

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24
Q

anaerobic glycolysis yields

A

2 ATPs/glucose

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25
complete oxidation of glucose to CO2 yields
32 ATPs/glucose
26
the brain attempts to use what as a fuel source during the beginning of hypoglycaemia
internal substrates such as glutamate and TCA cycle intermediates as fuels
27
blood glucose falls below 2.5 mM (45 mg/dL)
brain uses glutamate and TCA cycle
28
blood glucose falls below 1 mM (18 mg/dL),
atp is depleted
29
neurotransmitters effects in hypoglycaemia
glycine aspartate glutamate and GABA
30
vulnerable to hypoglycaemia
hippocampal and cortical structures
31
pathophysiologic mechanisms responsible for neuronal cell death include
the involvement of glutamate excitotoxicity when the cellular energy reserves are depleted The failure of the energy-dependent reuptake pumps results in a buildup of glutamate in the synaptic cleft and overstimulation of the postsynaptic glutamate receptors The prolonged glutamate receptor activation leads to prolonged opening of the receptor ion channel and the influx of lethal amounts of Ca2 ion, which can activate cytotoxic intracellular pathways in the postsynaptic neuron
32
impaired neurotransmitter synthesis causes
hypoxic encephalopathy
33
inhibition of pyruvate dehydrogenase diminishes
acetylcholine synthesis
34
lysosomal storage diseases
sphingolipidoses mucopolysaccharidoses | neuronal ceroid lipofuscinosis
35
gangliosidoses
krabbes disease - inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.
36
phenotype of lysosomal disease affecting cns
neuronal storage lipidosis and leukodystrophy
37
symptoms of neuronal storage lipidosis
neurological regression seizures blindness
38
disease of phenotype neuronal storage lipidosis
lsd include - gangliosidoses - mucopolysaccharidose, - neuronal ceroid lipofuscinoses
39
symptoms of leukodystrophy
neurological regression spasticity peripheral neuropathy
40
disease of phenotype leukodystrophy
lsd include - gangliosidoses (metachromatic leukodystrophy Krabbe's disease)
41
diseases of sphingolipidoses
- GM1 gangliosidosis - GM2 gangliosidosis: tay-Sachs disease sandhoff disease variant AB - krabbe disease - metachromatic leukodystrophy
42
enzyme defect of β-galactosidase
GM1 gangliosidosis
43
enzyme defect of Hexosaminidase β subunit
GM2 gangliosidosis
44
enzyme defect of galactocerebrosidase deficiency
krabbe disease
45
enzyme defect of Arylsulfatase A
metachromatic leukodystrophy
46
result from deficiencies in the enzymes which degrade glucosaminoglycans (dermatan, heparan, and keratan sulfate)
mucopolysaccharidoses
47
group of hereditary disorders with unknown enzyme defects associated with blindness
neuronal ceroid lipofuscinosis
48
lipofuscin-like material accumulates predominantly in neurons
neuronal ceroid lipofuscinosis
49
accumulation of very long chain fatty acids
peroxisomal disorders
50
cerebrohepatorenal syndrome disorder of peroxisomal biogenesis neuronal migration defects and white matter abnormalities
zellweger syndrome
51
peroxisomal defect involving a member of the ATP-binding transporter family accumulation of very long chain fatty acids adrenal dysfunction
adrenoleukodystrophy
52
neuromuscular, autosomal recessive metabolic disorder
Glycogen storage disease type II (Pompe’s disease or acid maltase deficiency)
53
lysosomal storage diseases caused by a deficiency in the enzyme acid α-glucosidase
Pompe’s disease
54
It is the only glycogen storage disease with a defect in lysosomal metabolism.
Pompe’s disease
55
form of dementia. It is caused by mutations in the genetic material (DNA) in the mitochondria
MELAS
56
``` Brain dysfunction (encephalopathy) with seizures and headaches, as well as muscle disease with a build-up of lactic acid in the blood (a condition called lactic acidosis). Temporary local paralysis (stroke-like episodes). Abnormal thinking (dementia). ```
symptoms of melas
57
disorders of copper metabolism
wilson disease and menkes disease
58
is a genetic disorder in which copper builds up in the body
wilson disease - symptoms are typically related to the brain and liver.
59
wilson disease is a mutation in which gene
ATP7B (chromosome 13) | autosomal recessive
60
wilson disease symptoms
cirrhosis kayser-fleischer ring elevated copper decreased ceruloplasmin abnormalities in basal ganglia; “face of giant panda” sign
61
kinky hair disease
menkes disease
62
menkes disease
mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency
63
menkes disease is a mutation in which gene
ATP7A X-linked recessive disorder
64
genes for coding copper transport protein
ATP7A