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Biochemistry > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

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
Q

complete oxidation of glucose to CO2 yields

A

32 ATPs/glucose

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26
Q

the brain attempts to use what as a fuel source during the beginning of hypoglycaemia

A

internal substrates such as glutamate and TCA cycle intermediates as fuels

27
Q

blood glucose falls below 2.5 mM (45 mg/dL)

A

brain uses glutamate and TCA cycle

28
Q

blood glucose falls below 1 mM (18 mg/dL),

A

atp is depleted

29
Q

neurotransmitters effects in hypoglycaemia

A

glycine aspartate glutamate and GABA

30
Q

vulnerable to hypoglycaemia

A

hippocampal and cortical structures

31
Q

pathophysiologic mechanisms responsible for neuronal cell death include

A

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
Q

impaired neurotransmitter synthesis causes

A

hypoxic encephalopathy

33
Q

inhibition of pyruvate dehydrogenase diminishes

A

acetylcholine synthesis

34
Q

lysosomal storage diseases

A

sphingolipidoses mucopolysaccharidoses

neuronal ceroid lipofuscinosis

35
Q

gangliosidoses

A

krabbes disease

  • inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.
36
Q

phenotype of lysosomal disease affecting cns

A

neuronal storage lipidosis and leukodystrophy

37
Q

symptoms of neuronal storage lipidosis

A

neurological regression seizures blindness

38
Q

disease of phenotype neuronal storage lipidosis

A

lsd include

  • gangliosidoses
  • mucopolysaccharidose,
  • neuronal ceroid lipofuscinoses
39
Q

symptoms of leukodystrophy

A

neurological regression spasticity peripheral neuropathy

40
Q

disease of phenotype leukodystrophy

A

lsd include
- gangliosidoses (metachromatic leukodystrophy
Krabbe’s disease)

41
Q

diseases of sphingolipidoses

A
  • GM1 gangliosidosis
  • GM2 gangliosidosis:
    tay-Sachs disease
    sandhoff disease
    variant AB
  • krabbe disease
  • metachromatic
    leukodystrophy
42
Q

enzyme defect of β-galactosidase

A

GM1 gangliosidosis

43
Q

enzyme defect of Hexosaminidase β subunit

A

GM2 gangliosidosis

44
Q

enzyme defect of galactocerebrosidase deficiency

A

krabbe disease

45
Q

enzyme defect of Arylsulfatase A

A

metachromatic leukodystrophy

46
Q

result from deficiencies in the enzymes which degrade glucosaminoglycans (dermatan, heparan, and keratan sulfate)

A

mucopolysaccharidoses

47
Q

group of hereditary disorders with unknown enzyme defects associated with blindness

A

neuronal ceroid lipofuscinosis

48
Q

lipofuscin-like material accumulates predominantly in neurons

A

neuronal ceroid lipofuscinosis

49
Q

accumulation of very long chain fatty acids

A

peroxisomal disorders

50
Q

cerebrohepatorenal syndrome
disorder of peroxisomal biogenesis
neuronal migration defects and white matter abnormalities

A

zellweger syndrome

51
Q

peroxisomal defect involving a member of the ATP-binding transporter family accumulation of very long chain fatty acids adrenal dysfunction

A

adrenoleukodystrophy

52
Q

neuromuscular, autosomal recessive metabolic disorder

A

Glycogen storage disease type II (Pompe’s disease or acid maltase deficiency)

53
Q

lysosomal storage diseases caused by a deficiency in the enzyme acid α-glucosidase

A

Pompe’s disease

54
Q

It is the only glycogen storage disease with a defect in lysosomal metabolism.

A

Pompe’s disease

55
Q

form of dementia. It is caused by mutations in the genetic material (DNA) in the mitochondria

A

MELAS

56
Q 
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).
A

symptoms of melas

57
Q

disorders of copper metabolism

A

wilson disease and menkes disease

58
Q

is a genetic disorder in which copper builds up in the body

A

wilson disease

  • symptoms are typically related to the brain and liver.
59
Q

wilson disease is a mutation in which gene

A

ATP7B (chromosome 13)

autosomal recessive

60
Q

wilson disease symptoms

A

cirrhosis kayser-fleischer ring elevated copper
decreased ceruloplasmin
abnormalities in basal ganglia; “face of giant panda” sign

61
Q

kinky hair disease

A

menkes disease

62
Q

menkes disease

A

mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency

63
Q

menkes disease is a mutation in which gene

A

ATP7A X-linked recessive disorder

64
Q

genes for coding copper transport protein

A

ATP7A

Biochemistry (5 decks)

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