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FRACP > Metabolic > Flashcards

Metabolic Flashcards

1
Q

What broadly are metabolic disorders

A

Disorders of enzymes or cycles needed to break down protein fats or sugars

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2
Q

What are the cardinal features of an organic aciduria

What is the best test

A

Metabolic acidosis
Moderate increase NH3
High ketones

Organic acids in urine

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3
Q

Which organic acidaemia causes

  • sweaty feet smell
  • bilateral subdurals like NAI
  • ketone smell
A

Isovaleric
Glutaric
Proprionic

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4
Q

What are the cardinal features of an aminoacidopathy

A

Normal PH and Ammonia

Raised amino acids in serum or urine

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5
Q

Maple syrup urine disease
Which class of disease does it belong to
What amino acids are raised
What causes the mousy smell
How is it treated initially and long term

A

Amino acidopathy
Valine Alloisolucine isoleucine lucine
Lucine
Fluids or dialysis, avoid above in diet

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6
Q

PKU

What is the defect

A

Can’t break down phenylalanine to tyrosine

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7
Q

Homocysteinuria
What is seen in blood. What is used in screening
What is different from Marfans- IQ, eyes, joints, inheritance
What needs to be given in treatment to prevent complications

A

High homocysteine. Methionine
Low IQ. Ectopia lentis up and in, stiff joints. AR
Aspirin

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8
Q

Urea cycle disorders
What are the cardinal features?
Which is x linked. How are the rest inherited?

A

Very high ammonia causing resp alkalosis. Normal ketones.
OTC deficiency
AR

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9
Q

What are the principles in initial management of a protein metabolism issue

A

Stop protein feeding
Iv dextrose or fluids to prevent catabolism
Dialysis if severely unwell

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10
Q

What are the two main groups of metabolic diseases causing hypo with a prolonged fast?
What differentiates between the two?

A

Fatty acid oxidation defects
Glycogen storage diseases

Ketones- FAOD has no raised ketones
GSDs have high ketones

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11
Q

Which FAOD may die before screening back?

Why?

A

Long chain- cardiomyopathy

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12
Q 
What enzyme is lacking in galactosaemia
What is the inheritance 
What are the features on presentation
What is a complication that improves with treatment 
What feeds are given
A 
GALT 
AR
hypo with ketones and FTT. palpable liver. Prolonged jaundice and E. coli sepsis 
Oil drop cataract
Soy and casein formula
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13
Q

What 4 muscle diseases are GSD what are specific features to each
How can they present

A

1- von gierke- doll like faces
2- pompe- massive cardiomegaly and palpable rubbery muscles
5- mcardle- pain early in exercise
Carburise deficiency- pain late in exercise

Weakness, myoglobin in urine, rhabdo

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14
Q

What are perioxosomes?
How do the conditions present?
What are 2 examples

A

Bags of enzymes in organelles
Increased very long chain fatty acids
Zelwegger and X linked adrenoleukodystrophy

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15
Q

What are mitochondria needed for
Do the disorders have mitochondrial inheritance?
What are 2 cardinal features?
What is seen on muscle biopsy?

A

Aerobic respiration
No
Raised serum and CSF lactate
Ragged red fibres

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16
Q 
What are the key features of the following mitochondrial diseases 
Leigh 
MELAs 
Pearson 
Kearns sayers

What is specific about the timing of mitochondrial disease?

A

Leigh- panting respirations. Necrosis on basal ganglia and midbrain
MELAS- stroke- like episodes
Pearson- sideroblastic anaemia and exocrine panreas disease
Kearns sayers- progressive ophthalmoplegia

It can present at any age!

17
Q

What three features are common to lysosomal storage disorders?
What is the biggest group
How are they screened for
What are features of type 1,2 and 3

A

Cherry red spots, regression and coarse features
Mucopolysaccharides
Urinary GAGs
1- Hunter- corneal clouding
2- hurler- normal cornea. Skeletal abnormalities and pebbly skin
3- sanfillipo- subtle features

18
Q

What is the main mechanism for MCADD to cause hypoglycaemia

A

Impaired gluconeogenesis

19
Q

What is used to treat encephalopathy with high ++ ammonia

A

Sodium benzoate

FRACP (23 decks)

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