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MEDI 202 - Genes To Community > Single Gene Disorders > Flashcards

Single Gene Disorders Flashcards

1
Q

What are inborn errors of metabolism?

A

Group of genetic disorders caused due to a deficiency of an enzyme required for the formation of a protein

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2
Q

Explain how an inborn error of metabolism occurs

A

Block at some point in the normal metabolic pathway

Mutation

Specific Protein

Transport Vesicle, Receptor, Membrane Pump, Structural element, Enzyme

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3
Q

What is a genetic disorder?

A

A disease that is caused by a change, mutation in an individual’s DNA sequence

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4
Q

What can cause a mutation?

A

Radiation
Chemicals
Infectious agents (HPV, Helicobacter pylori)

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5
Q

What is the effect of mutations on the population?

A

Increases biodiversity

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6
Q

What are silent mutations?

A

Change in a nucleotide but no change in amino acid sequence of polypeptide

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7
Q

What is a missense mutation?

A

Change in nucleotide which causes a slight change, slight different amino acid sequence

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8
Q

What causes sickle cell?

A

Point mutation

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9
Q

What is a nonsense mutation?

A

Nucleotide substituted and polypeptide synthesis causes the formation of premature stop codon.

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10
Q

What causes thalassemia?

A

Frame shift mutation, addition

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11
Q

What are disorders of amino acid metabolism?

A

PKU, Maple syrup urine disease, albinism

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12
Q

What are disorders of carbohydrate metabolism?

A

Galactosemia, Glycogen storage disease, lactose intolerance

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13
Q

What are disorders of protein metabolism?

A

Immunoglobulin deficiencies
Absent clotting factor: haemophilia
Alpha - 1 antitrypsin deficiency

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14
Q

What could suggest an inborn error of metabolism? (History)

A

Consanguinity
Jaundice
Seizures
Abdominal distension
Developmental delay

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15
Q

What could suggest an inborn error of metabolism? (Clinically)

A

Critically ill newborn
Organomegaly
Cataract
Dysmorphic features
Mental retardation

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16
Q

What causes PKU?

A

Increase of phenylalanine in the blood

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17
Q

What foods is phenylalanine found in?

A

Chicken, fish, milk, cheese and artificial sweeteners

18
Q

What does a person with PKU have?

A

A mutation in the PAH gene chromosome 12

19
Q

Signs and symptoms of PKU?

A

Intellectual disability,
Seizures,
Delayed development,
Behavioural issues,
Musty door of urine,
Light skin, blue eyes

20
Q

Why do PKU patients often have light skin and blue eyes?

A

Obstruction in phenylalanine transforming to melanin

21
Q

What causes maternal PKU?

A

High phenylalanine levels due to lack of diet restrictions

22
Q

What happens if PKU reaches the fetus?

A

Low birth weight
Microcephaly
Heart defects
Increased risk of pregnancy loss

23
Q

What is the treatment for PKU?

A

Diet for life, extremely low levels of phenylalanine

24
Q

What is galactosemia?

A

Inherited condition associated with diminished ability to metabolise galactose

25
Q

What causes galactosemia?

A

Deficiency of enzyme, galactose-1-phosphate uridylyltransferase

26
Q

What are the three types of galactosemia?

A

Mutation in GALT gene, classic galactosemia
Galactosemia type II, mutation in GALK gene
Mutation is GALE gene, galactosemia type III

27
Q

What are the early symptoms of galactosemia?

A

Jaundice
Vomiting
Poor weight gain
Hypoglycaemia
Feeding difficulties
Lethargy

28
Q

What are the later symptoms of galactosemia?

A

Cataract
Intellectual disability
Liver failure
Kidney problems
Swelling

29
Q

What are long term complications of galactosemia?

A

Poor growth
Learning disabilities
Fine & gross motor delays
Ovarian failute
Decreased bone density

30
Q

What is the treatment for galactosemia?

A

Dietary restrictions

31
Q

What cause lactose intolerance?

A

Reduced production of lactase

32
Q

What is GSDI or Von Gierke disease?

A

Buildup of a complex sugar glycogen in body cells

33
Q

What causes GSDI?

A

Deficiency in glucose-6-phosphatase

34
Q

What are some signs of GSDI?

A

Babies sleep through night
Do not eat as frequently
Hypoglycaemia
Seizures
Lactic acidosis
Hyperuricemia
Hyperlipidemia

35
Q

What is the treatment for GSDI?

A

Foods high in glucose

36
Q

What tests should be given to babies with suspected IBM?

A

Blood count
Blood gases and electrolytes
Blood glucose
Plasma ammonia
Arterial blood lactate
Liver function
Urine ketones
Urine reducing substances
Serum uric acid

37
Q

Which test is the standard test for diagnosis of PKU?

A

Urine reducing substances

38
Q

What is in vivo?

A

Direct delivery of genes into the cells of a particular tissue in the body

39
Q

What is ex vivo?

A

Transfer of genes to cultured cells and reinsertion

40
Q

What is usually engineered to deliver the gene?

A

A vector, usually virus

41
Q

Why is the vector modified prior to delivery?

A

Will not be able to cause disease when used in people

42
Q

What are some types of viruses used as vectors?

A

Retroviruses
Adenoviruses

MEDI 202 - Genes To Community (23 decks)

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