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MSE-2020 Cell Biology > Lecture 11: Inherited Metabolic Diseases > Flashcards

Lecture 11: Inherited Metabolic Diseases Flashcards

1
Q

When do inherited metabolic diseases present in life?

A

Early in childhood but can present more widely

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2
Q

What causes the IMD to present? (2)

A

Build up of precursor/intermediary metabolite
Product deficiency

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3
Q

What factors are used to classify IDM?

A

Disorders that give rise to intoxication
Disorders involving energy metabolism
Disorders involving complex molecules

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4
Q

What does intoxication mean in the context of IMD?

A

Too toxic of an environment for cells to survive.

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5
Q

PKU, Porphyria, Organic acidurias (MMA), urea cycle defects, Wilson disease, are examples of what type of IDM?

A

Disorders that give rise to intoxication

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6
Q

Mitochondrial defects, fatty acid oxidation defects (MCADD), Respiratory chain defects, are examples of what type of IDM?

A

Disorders involving energy metabolism

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7
Q

Lysosomal storage disorders, Gaucher disease, are examples of what type of IDM?

A

Disorders involving complex molecules

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8
Q

What can help diagnose IMD in symptomatic patients?

A

Clinical history
Genetic testing
Histology
Blood/urine test

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9
Q

What can help diagnose IMD in a whole population?

A

Screening programmes/Targeted screening

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10
Q

Why are urine tests helpful for blood disorders?

A

You can see crystals of the affected amino acid within the urine

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11
Q

ToD: All inherited disorders are life threatening

A

False
They can affect quality of life OR be life threatening

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12
Q

What is the name of the post-natal screening process?

A

Newborn blood spot (heel prick) test

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13
Q

What can the heel prick test test for? (8)

A

Phenylketonuria
Hypothyroidism
Cystic fibrosis
Sickle cell disease
MCADD
Galactosaemia
CAH
Duchenne muscular dystrophy

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14
Q

What can be seen in infants if they have a low level of phenylalanine?

A

Poor weight gain

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15
Q

Where can phenylalanine be found in foods?

A

High protein foods
Ingredient to Aspartame (artificial sweetener)

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16
Q

What does phenylalanine do in the body?

A

Helps the body use enzymes and amino acids in the body.
Can be converted into norephinephrine and epinephrine

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17
Q

Another name for Hypotonia

A

Floppy baby

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18
Q

Describe what you should see in a baby with Hypotonia (floppy baby)

A

Baby hangs there when held up. Completely limp inside of squirming and moving its legs.
Baby legs should tense and should bend like a v shape.

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19
Q

What does FISH stand for?

A

Fluorescence in situ hybridisation.

20
Q

What is FISH used for?

A

Can be used to run tests on a single cell to scan for multiple abnormalities
Couples with a history of birthing children with genetic diseases can have embryos screened to check for MD.
IVF is used to implant the embryo without a genetic disease

21
Q

Which chromosomes are checked during FISH? (9)

A

X
Y
13
14
15
16
18
21
22

22
Q

What can a disorder with the 9 chromosomes result in for the mother?

A

Spontaneous abortion

23
Q

What are some concerns with Pre-Natal Genetic Scanning?

A

Designer babies
Sex-selection

24
Q

What are some positives for Pre-Natal Genetic Scanning?

A

Reproductive beneficence

25
Q

If IMD is suspected, what are some first line tests? (8)

A

Glucose (low/hypoglycaemia)
Ammonia (raised/hyperammonaemia)
LFTs (raised/liver enzymes or hyperbilirubinaemia)
Lactate (raised/lactic acidosis)
CK
FBC
Blood gases
Urine ketones

26
Q

How many known lysosomal disorders are there?

A

40

27
Q

How is each lysosomal disorder differentiated between each other?

A

Transporters
Activators
Enzymes

28
Q

What can happen due to having a lysosomal disorder?

A

Toxic build up of partially denatured substrates

29
Q

ToD: Most lysosomal disorders are autosomal recessive conditions?

A

True

30
Q

How long does it take to present with symptoms of a lysosomal disorder?

A

3-6 months of life

31
Q

Why is it important to keep track of a baby’s status/stats e.g weight?

A

Easier to identify lysosomal disorders

32
Q

What are the names of the different lysosomal storage disorders that can occur? (4)

A

Lipid/sphingolipidoses
Glycoproteinoses/mucolipidoses
Mucopolysaccharidoses
Others

33
Q

Name some examples of Sphingolipidoses (2)

A

Gaucher
Tay-Sachs

34
Q

Name some examples of Glycoproteinoses/mucolipidoses (2)

A

Mannosidosis
I-cell disease

35
Q

Name some examples of Mucopolysaccharidoses (3)

A

MPS disorders
Hurler
Hunter

36
Q

Name some examples of Other lysosomal storage disorders (3)

A

Pompe
Cystinosis
Battens

37
Q

Which is the most common disease amongst all the ones mentioned?

A

Gaucher

38
Q

Name the neurological symptoms that can appear in lysosomal storage diseases (5)

A

Developmental delay/regression
Behavioural disturbance
Intellectual disability
Hypotonia, developing spasticity
Seizures

39
Q

Name the ophthalmological symptoms that can appear in lysosomal storage diseases (3)

A

Macular cherry-red spots
Optic atrophy
Corneal clouding

40
Q

Name the Craniofacial symptoms that can appear in lysosomal storage diseases (3)

A

Coarse features
Macroglossia
Large, low-set ears

41
Q

Name the Skeletal symptoms that can appear in LSD (3)

A

Spinal abnormalities
Broad hands and feet
Brachydactyly

42
Q

Name the Abdominal that can appear in LSD (3)

A

Hepatosplenomegaly
Inguinal hernia

43
Q

Name the Haematological that can appear in LSD (4)

A

Vacuolated or granulated lymphocytes
Foam cells
Bone marrow abnormalities
Cytopenias

44
Q

How is LSD managed?

A

Bone Marrow transplant (HSCT)
Enzyme replacement
Substrate reduction
Gene therapy

45
Q

Slide 17

A

MSE-2020 Cell Biology (8 decks)

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