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MRCPCH Part 2 > Metabolic > Flashcards

Metabolic Flashcards

1
Q

Hypokalaemic metabolic alkalosis
Hypercalciuria
Raised renin, aldosterone and prostaglandin E

A

Bartter syndrome

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2
Q

When does maple syrup urine disease present?

A

First week of life (breastfeeding can delay onset until second week)

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3
Q

Presenting symptoms of maple syrup urine disease?

A 
Lethargy
Irritability
Poor feeding
Focal neurology - abnormal movements and increasing spasticity
Opisthotonus
Convulsions + coma
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4
Q

What is the unique finding in maple syrup urine disease?

A

Characteristic maple odour in urine and earwax within a day or two of birth

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5
Q

How do you confirm a diagnosis of maple syrup urine disease?

A

Raised amino acids (leucine, isoleucine, valine)

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6
Q

How does galactosaemia present?

A 
First 2 weeks of life
Poor feeding
Vomiting
Jaundice
Hepatomegaly
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7
Q

How does methylmalonic academia present?

A

Few months into life
Neurological manifestations
Abnormally high methylmalonic acid in blood and urine

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8
Q

How does PKU present?

A 
In infancy
Lethargy
Feeding difficulties
Unusually light eyes, skin and hair
Musty odour
Eczematous rash
Developmental delay
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9
Q

Biochemical findings in urea cycle defects?

A

Raised ammonia

Abnormal levels of intermediate molecules of the urea cycle (arginine, citrulline, others)

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10
Q

How to treat acute illness in urea cycle defect with high ammonia?

A

Stop feeds (Take away protein load)
IV 10% dextrose
Remove ammonia with sodium benzoate

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11
Q

Cause of Hunter’s disease

A

Deficiency of lysosomal enzymes that degrade GAGs, causing accumulation and excessive urinary excretion of GAGs

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12
Q

Features of Hunter’s disease

A 
Coarsening facies
Developmental delay
Heart murmur
Hepatomegaly
Joint stillness
Inguinal hernias
Short stature
Hydrocephalus
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13
Q

Investigations in suspected Hunter’s disease

A

Echo
Urinary GAGs
Enzyme studies
Skeletal X-rays

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14
Q

What is Hunter’s disease also known as?

A

MPS type II

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15
Q

Cause of vitamin D dependent rickets type 1

A

Mutation in gene for enzyme 1 alpha-hydroxylate; therefore 1,25 vit D is low

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16
Q

Treatment of vitamin D dependent rickets type 1

A

High dose vitamin D or 1 alpha-calciferol

17
Q

Diagnosis of rickets with raised or normal ALP, normal 1,25 fit D and low 25-hydroxycholecalciferol?

A

Nutritional rickets

18
Q

Cause of Gaucher’s disease

A

Glucocerebrosidase deficiency

19
Q

Most common lysosomal storage disease?

A

Gaucher’s

20
Q

Typical presentation of Gaucher’s

A

Tiredness
Organomegaly
Bone pain

21
Q

Diagnostic test for Gaucher’s

A

Enzyme studies

22
Q

Investigations that should be done in suspected Gaucher’s

A

Bone marrow aspirate
Leg X-ray
Ultrasound abdomen

23
Q

What will a bone marrow aspirate find in Gaucher’s?

A

Classic glycolipid-laden macrophages

24
Q

What will a leg X-ray show in Gaucher’s?

A

Erlenmeyer flask deformities

25
Q

When do you see microcytic anaemia with hyperhsegmented neutrophils?

A

Folic acid or B12 deficiency

26
Q 
Global delay
Microcephaly
Muscular hypotonia
External ophthalmoplegia
Elevated lactate

Suggests?

A

Mitochondrial disease

27
Q

Cause of mitochondrial disorders?

A

Defects in the respiratory chain (complexes I to V) which are involved in producing cellular ATP

28
Q

Strongly consider a mitochondrial disorder in patients with:

A

Muscular disease + involvement of 2 additional systems
CNS disease and involvement of 2 additional systems
Multisystem disease (at least 3 systems) and involvement of muscle and/or CNS

29
Q

Initial investigations in suspected mitochondrial disease?

A

Organic acids
CSF lactate
MRI brain
Muscle biopsy

30
Q

Presentation of MCADD

A

First 3 years of life
Hypoglycaemia
Hepatomegaly
Sudden death, possibly brought on by a period of fasting or vomiting

31
Q

Blood tests in MCADD

A

Low bicarb
Anion gap
Hypoglycaemia in absence of ketons
Mild to moderately high ammonia

32
Q

Blood tests in organic acidurias

A

Metabolic acidosis with ketosis
Elevated lactate
Mild to moderate hyperammonaemia

33
Q

What do reducing substances in the urine suggest?

A

Galactosaemia

34
Q

Most reliable test for galactosaemia?

A

Galactose-1-phosphate uridyltransferase in the blood

35
Q

Presentation of infantile Tay-Sachs disease

A 
Ashkenazi Jewish
3-6 months
Mild muscle weakness
Myoclonic jerks
Exaggerated startle response

MRCPCH Part 2 (24 decks)

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