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MRCPCH TAS > Metabolic Medicine > Flashcards

Metabolic Medicine Flashcards

1
Q

Mutation of HPRT1 gene

A

Lesch-Nyhan syndrome

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2
Q

What is Lesch-Nyhan syndrome

A

Characterised by the overproduction and accumulation of uric acid

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3
Q

Characterised by self-injury (i.e. head banging and self biting)?

A

Lesch-Nyhan syndrome

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4
Q

Inheritance of Lesch-Nyhan syndrome?

A

X-linked recessive

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5
Q

Associated with oil drop cataracts

A

Galactosaemia

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6
Q

Due to a mutation in the galactose-1-phosphate uridyltransferase gene on chromosome 9

A

Galactosaemia

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7
Q

Associated with e-coli sepsis

A

Galactosaemia

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8
Q

What is Hartnup disease?

A

Metabolic condition affecting the transport of amino acids in the kidneys and small intestine

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9
Q

First presentation is with photosensitivity and symptoms of pellagra (diarrhoea and dermatitis)?

A

Hartnup disease

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10
Q

What is Alkaptonuria?

A

Characterised by homogentistic acid oxidase deficiency - leads to an accumulation of homogentistic acid (passed in the urine however if urine left standing it rapidly oxidises forming a black pigment)

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11
Q

Symptoms of Alkaptonuria?

A

Homogentistic deposition in the cartilage leading to grey discolouration in young adulthood
Deposition in cardiac tissue - aortic stenosis

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12
Q

Characterised by a deficiency of aldolase B?

A

Hereditary fructose deficiency

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13
Q

Name the types of organic acidaemia?

A

Maple syrup urine disease
Propionic academia
Methylmalonic acidaemia
Isovaleric acidaemia

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14
Q

Investigation of choice for organic acidaemia?

A

Raised blood and urine amino acids (leucine, isoleucine and valine)

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15
Q

Exacerbated by infection and periods of high protein intake?

A

Organic acidaemia

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16
Q

Treatment is with a low protein diet?

A

Organic acidaemia

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17
Q

What are the causes of a increased anion gap acidosis?

A

Methanol
Uraemia
DKA/ AKA
Paraldehyde/ phenformin
Iron
Lactic acidosis
Ethylene glycol
Salicylates

Mneumonic MUDPILES

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18
Q

What causes a normal anion gap acidosis? i.e hyperchloraemic metabolic acidosis

A

Gastrointestinal bicarbonate loss: diarrhoea, ureterosigmoidostomy, fistula
Renal tubular acidosis
Drugs: e.g. acetazolamide
Ammonium chloride injection
Addison’s disease

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19
Q

What is the treatment of choice for acute attacks in MCADD?

A

10% dextrose

20
Q

Usually presents as an inability to generate energy during periods of high demand?

A

MCADD

21
Q

May present with hypoglycaemia, hepatic encephalopathy or sudden infant death syndrome

A

MCADD

22
Q

Site of ribosome production

A

Nucleolus

23
Q

Site of translation and folding of new proteins?

A

Rough endoplasmic reticulum

24
Q

Site of steroid and lipid synthesis?

A

Smooth endoplasmic reticulum

25
Q

Modifies, sorts and packages molecules that are destined for cell secretion?

A

Golgi apparatus

26
Q

Site of DNA maintenance and RNA transcription?

A

Nucleus

27
Q

Site of breakdown of large molecules such as proteins and pilysaccharides?

A

Lysosomes

28
Q

Site of translation of RNA into proteins?

A

Ribosomes

29
Q

Involved in degradation of protein molecules that have been tagged with ubiquitin

A

Proteasome

30
Q

Investigations for peroxisomal disorders?

A

Elevated very long chain fatty acids
Elevated bile acid intermediates
Elevated phytanic acid and pipecolic acid

31
Q

Signs of rickets?

A

In toddlers - genu varum (bow legs), in older children - genu valgum (knock knees)
‘Rickety rosary’ - swelling at the costochondral junction
Kyphoscoliosis
Craniotabes - soft skull bones in early life
Harrison’s sulcus

32
Q

Normal blood gas in pregnancy?

A

Compensated respiratory alkalosis

33
Q

Causes of hypercalcaemia?

A

C alcium supplementation
H yperparathyroidism
I atrogentic (Drugs: Thiazides)
M ilk Alkali syndrome
P aget disease of the bone
A cromegaly and Addison’s Disease
N eoplasia
Z olinger-Ellison Syndrome (MEN Type I)
E xcessive Vitamin D
E xcessive Vitamin A
S arcoidosis

34
Q

Cherry red spot with neurological deterioration and no evidence of hepatosplenomegaly?

A

Tay-Sachs disease

35
Q

Cherry red spot with neurological deterioration and hepatosplenomegaly?

A

Niemann Pick syndrome

36
Q

Which form of Niemann Pick does NOT present in children>

A

Type E

37
Q

Causes of a cherry red spot?

A

Central retinal artery occlusion
Niemann-Pick
Tay-Sachs
Sandhoff disease
Multiple Sulfatase Deficiency
Mucolipidosis Type 1 and 2

38
Q

Phenylalanine hydroxylase deficiency

A

PKU

39
Q

Cystathionine beta synthase deficiency

A

Homocysteinuria

40
Q

Beta-N-acetylhexosaminidase A deficiency

A

Tay-Sachs disease

41
Q

Glucosylceramidase deficiency

A

Gaucher’s disease

42
Q

Sphingomyelinase deficiency

A

Neimann-Pick disease

43
Q

Musty smell?

A

PKU

44
Q

What are the causes of a normal anion gap?

A

Hyperventilation
Acetazolamide
Renal tubular acidosis
Diarrhoea
Ureteral diversion
Pancreatic fistula

45
Q

Which 6 metabolic conditions are tested for on Guthrie heel prick?

A

Phenylketonuria (PKU)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

Maple syrup urine disease (MSUD)

Isovaleric acidaemia (IVA)

Glutaric aciduria type 1 (GA1)

Homocystinuria (pyridoxine unresponsive) (HCU)

46
Q

Where is calcitonin released from?

A

C cells of the thyroid

MRCPCH TAS (8 decks)

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