Metabolic Disorders

Question 1

vitamin B1

Answer 1

thiamine

Question 2

vitamin B1 deficiency

Answer 2

Wernicke-Korsakoff syndrome (WKS)

Question 3

Wernicke-Korsakoff syndrome (WKS)

Answer 3

• 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

Question 4

ophthalmoplegia

Answer 4

paralysis or weakness of the eye muscles

Question 5

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

Answer 5

thiamine pyrophosphate

Question 6

alcohol relationship with vitamin

Answer 6

impairs absorption

Question 7

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

Answer 7

vitamin E deficiency

Question 8

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

Answer 8

abetalipoproteinemia

Question 9

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

Answer 9

symptoms of vitamin E deficiency

Question 10

neurodegenerative effects of vitamin E deficiency are due to

Answer 10

loss of the anti-oxidant action of alpha tocopherol

Question 11

vitamin B12

Answer 11

cobalamin

Question 12

main dietary source of cobalamin

Answer 12

meat and dairy

Question 13

in the stomach vitamin b 12 aka cobalamin is bound to

Answer 13

glycoprotein called intrinsic factor produced by parietal cells

Question 14

cobalamin-intrinsic factor complex is transported to the

Answer 14

terminal ileum

Question 15

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

Answer 15

vitamin B12 deficiency

Question 16

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

Answer 16

cobalamin

Question 17

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

?-regulated.

Answer 17

TNF-a = unregulated 
EGF = down regulated

Question 18

are unable to pass the blood–brain barrier

Answer 18

lipids

Question 19

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

Answer 19

cns use of ketone bodies

Question 20

ketone body used by the brain is

Answer 20

hydroxybutyrate

Question 21

hypoglycaemia blood glucose levels under

Answer 21

40 mg / dl

Question 22

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

Answer 22

hyperinsulinemia

Question 23

brain uses how much of the oxygen supply of the body

Answer 23

20%

Question 24

anaerobic glycolysis yields

Answer 24

2 ATPs/glucose

Question 25

complete oxidation of glucose to CO2 yields

Answer 25

32 ATPs/glucose

Question 26

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

Answer 26

internal substrates such as glutamate and TCA cycle intermediates as fuels

Question 27

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

Answer 27

brain uses glutamate and TCA cycle

Question 28

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

Answer 28

atp is depleted

Question 29

neurotransmitters effects in hypoglycaemia

Answer 29

glycine aspartate glutamate and GABA

Question 30

vulnerable to hypoglycaemia

Answer 30

hippocampal and cortical structures

Question 31

pathophysiologic mechanisms responsible for neuronal cell death include

Answer 31

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

Question 32

impaired neurotransmitter synthesis causes

Answer 32

hypoxic encephalopathy

Question 33

inhibition of pyruvate dehydrogenase diminishes

Answer 33

acetylcholine synthesis

Question 34

lysosomal storage diseases

Answer 34

sphingolipidoses mucopolysaccharidoses | neuronal ceroid lipofuscinosis

Question 35

gangliosidoses

Answer 35

krabbes disease - inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.

Question 36

phenotype of lysosomal disease affecting cns

Answer 36

neuronal storage lipidosis and leukodystrophy

Question 37

symptoms of neuronal storage lipidosis

Answer 37

neurological regression seizures blindness

Question 38

disease of phenotype neuronal storage lipidosis

Answer 38

lsd include - gangliosidoses - mucopolysaccharidose, - neuronal ceroid lipofuscinoses

Question 39

symptoms of leukodystrophy

Answer 39

neurological regression spasticity peripheral neuropathy

Question 40

disease of phenotype leukodystrophy

Answer 40

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

Question 41

diseases of sphingolipidoses

Answer 41

- GM1 gangliosidosis - GM2 gangliosidosis: tay-Sachs disease sandhoff disease variant AB - krabbe disease - metachromatic leukodystrophy

Question 42

enzyme defect of β-galactosidase

Answer 42

GM1 gangliosidosis

Question 43

enzyme defect of Hexosaminidase β subunit

Answer 43

GM2 gangliosidosis

Question 44

enzyme defect of galactocerebrosidase deficiency

Answer 44

krabbe disease

Question 45

enzyme defect of Arylsulfatase A

Answer 45

metachromatic leukodystrophy

Question 46

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

Answer 46

mucopolysaccharidoses

Question 47

group of hereditary disorders with unknown enzyme defects associated with blindness

Answer 47

neuronal ceroid lipofuscinosis

Question 48

lipofuscin-like material accumulates predominantly in neurons

Answer 48

neuronal ceroid lipofuscinosis

Question 49

accumulation of very long chain fatty acids

Answer 49

peroxisomal disorders

Question 50

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

Answer 50

zellweger syndrome

Question 51

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

Answer 51

adrenoleukodystrophy

Question 52

neuromuscular, autosomal recessive metabolic disorder

Answer 52

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

Question 53

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

Answer 53

Pompe’s disease

Question 54

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

Answer 54

Pompe’s disease

Question 55

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

Answer 55

MELAS

Question 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). ```

Answer 56

symptoms of melas

Question 57

disorders of copper metabolism

Answer 57

wilson disease and menkes disease

Question 58

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

Answer 58

wilson disease - symptoms are typically related to the brain and liver.

Question 59

wilson disease is a mutation in which gene

Answer 59

ATP7B (chromosome 13) | autosomal recessive

Question 60

wilson disease symptoms

Answer 60

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

Question 61

kinky hair disease

Answer 61

menkes disease

Question 62

menkes disease

Answer 62

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

Question 63

menkes disease is a mutation in which gene

Answer 63

ATP7A X-linked recessive disorder

Question 64

genes for coding copper transport protein

Answer 64

ATP7A