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1MRCPCH FOP and TAS > Metabolism and Metabolic Medicine > Flashcards

Metabolism and Metabolic Medicine Flashcards

1
Q

What is the mode of inheritance for most IEMs?

A

AR

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2
Q

In what IEMs would amino acid and acylcarnitines be useful in?

A

Urea cycle disorders
Organic acidaemia or amino acidopathy

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3
Q

In what IEMs would urine amino acids be useful in?

A

Tubulopathy
Cystinosis

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3
Q

In what IEMs would ammonia be useful in?

A

Urea cycle disorders

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3
Q

In what IEMs would lactate be useful in?

A

Mitochondrial disorders
Glycogen storage disorders

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3
Q

In what IEMs would Gal-1-PUT assay be useful in?

A

Galactosaemia

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3
Q

What IEMs are included in the newborn blood spot testing?

A

PKU
MCAD
GA1 (Glutaric aciduria type 1)
Isovaleric acidaemia
Homocystinuria
Maple syrup urine disease

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3
Q

In what IEMs would very long chain fatty acids be useful in?

A

Peroxisomal disorder

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3
Q

In what IEMs would urine glycosaminoglycans and oligosaccharides be useful in?

A

Mucopolysaccharidoses
Oligosaccharidoses

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3
Q

When thinking about IEMs when would white cell enzymes be useful in?

A

Dysmorphism
Organomegaly
LDs
Developmental regression

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3
Q

What is the dietary treatment for GLUT1 deficiency?

A

Ketogenic diet

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3
Q

In what IEMs would urine organic acids be useful in?

A

Organic acidaemia
Fatty acid oxidation disorders

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3
Q

What is the carrier prevalence of PKU?

A

1 in 50

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4
Q

What is the prevalence of MCAD?

A

1 in 10000

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4
Q

How does PKU present?

A

LDs
Seizures
Microcephaly

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4
Q

How is PKU treated?

A

Phenylalanine restricted diet

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4
Q

How is MCAD treated?

A

Avoidance of fasting
Emergency regimen for period of illness/stress

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4
Q

What is the prevalence of glutaric aciduria type 1 (GA1)?

A

1 in 30000-40000

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4
Q

What is the prevalence of PKU?

A

1 in 10000

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4
Q

How does MCAD present?

A

Encephalopathy - often rapidly progressive
Collapse after prolonged fasting resulting in a non-ketotic hypoglycaemia
Death if untreated

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4
Q

How does GA1 present?

A

Macrocephaly with encephalopathic crisis
Usually at 6-18months
Results in dystonic-dyskinetic movement disorder

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4
Q

What is the prevalence of isovaleric acidaemia?

A

1 in 250000

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4
Q

How is isovaleric acidaemia treated?

A

Low protein diet
Carnitine
Glycine

4
Q

How is GA1 treated?

A

Specialist diet
Avoidance of fasting
Daily carnitine

4
Q

How does isovaleric acidaemia present?

A

Metabolic acidosis +/- hyperammonaemia

5
Q

What is the prevalence of homocystinuria?

A

1 in 200000-335000
1 in 65000 in those with Irish ancestry

6
Q

How does homocystinuria present?

A

Marfanoid appearance
LDs
Lens dislocation
Osteoporosis
Thromboembolism

7
Q

How is homocystinuria treated?

A

Low protein diet
Pyridoxine
Folic acid

8
Q

What is the prevalence of maple syrup urine disease?

A

1 in 185000

9
Q

How does maple syrup urine disease present?

A

Progressive encephalopathy in first week of life

10
Q

How is maple syrup urine disease treated?

A

Low protein diet

11
Q

What is the primary disturbance in respiratory acidosis?

A

Raised PCO2

12
Q

What are the effects on the blood gas due to respiratory acidosis?

A

Low pH
Raised PCO2
-ve BE

12
Q

What is the bodies compensatory response to respiratory acidosis?

A

Raised bicarbonate

13
Q

What are the effects on the blood gas in metabolic acidosis?

A

Low pH
pCO2 normal or low
BE -ve

13
Q

What is the primary disturbance in metabolic acidosis?

A

Low bicarbonate

14
Q

What is the bodies compensatory response in metabolic acidosis?

A

Lowers PCO2

14
Q

What are the effects on the blood gas in respiratory alkalosis?

A

High pH
PCO2 low
BE +ve

14
Q

What is the primary disturbance in respiratory alkalosis?

A

Lowered PCO2

15
Q

What is the bodies compensatory response in respiratory alkalosis?

A

Low bicarbonate

15
Q

What is the primary disturbance in metabolic alkalosis?

A

High bicarbonate

16
Q

What are the effects on the blood gas in metabolic alkalosis?

A

High pH
PCO2 normal or high
BE +ve

17
Q

What is the bodies compensatory response in metabolic alkalosis?

A

Raised PCO2

18
Q

When does acidosis more likely indicate an IEM rather than an acute other illness?

A

Severe acidosis more proportionate to the usual clinical condition
Abnormalities persist despite standard management
Raised anion gap

19
Q

How is the anion gap calculated?

A

(Na+ + K+) - (Cl- + HCO3 -)

20
Q
A
20
Q

What is the normal value for the anion gap in children?

A

10-16mmol/L

21
Q

What conditions cause hyperammonaemia?

A

Severe illness
Liver disease
Certain medications
Transiently in the neonates

21
Q

What conditions can cause a metabolic acidosis with a raised anion gap?

A

DKA
Renal failure
Poisoning - salicylate, ethanol, methanol, paraldehyde
IEMs

22
Q

What is the management of metabolic acidosis?

A

Treatment of underlying condition
Sodium bicarbonate in severe cases

22
Q

What conditions cause a metabolic acidosis with a normal anion gap?

A

Intestinal loss of base - diarrhoea
Renal loss of base - renal tubular acidosis T1+T2

22
Q

How is hyperammonaemia managed?

A

Stop any feeds
10% dextrose
Ammonia scavenging medications
Arginine to support urea cycle
PICU for haemofiltration

22
Q
A
22
Q
A
23
Q
A
23
Q

What are examples of ammonia scavenging medications?

A

Glycerol phenylbutyrate
Sodium phenylbutyrate

23
Q
A

1MRCPCH FOP and TAS (11 decks)

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