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TAS Revision > Metabolic Medicine > Flashcards

Metabolic Medicine Flashcards

1
Q

Which condition is associated with sweaty feet odour?

A

Isovalaeric Acidaemia

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2
Q

What is the investigation of choice for isovalaeric academia?

A

Urine organic acids showing elevated C5 acylcarnitine

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3
Q

Which condition is associated with a sweet smell to ear wax/ urine?

A

Maple syrup urine disease

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4
Q

How is MSUD diagnosed?

A

Detection of L-alloisoleucine

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5
Q

What is the management of MSUD?

A

Leucine, isoleucine and valine

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6
Q

Which condition is associated with a musty smell?

A

PKU

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7
Q

What are the symptoms of PKU?

A

Fair hair
Blue eyes
Eczema
Photophobia
Microcephaly
Intellectual disability
Epilepsy

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8
Q

What is the pathophysiology of PKU?

A

A deficiency in phenylalanine hydroxyalase causes elevated levels of phenylalanine

Low tyrosine levels also lead to low dopamine and epinephrine levels

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9
Q

How is PKU diagnosed?

A

Plasma amino acids
Elevated phenylalanine levels

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10
Q

How is PKU managed?

A

Commence low protein diet
Phenylalanine free medical formula - should be mostly breast fed as this is naturally low in phenylalanine (e.g. XP Analog LCP)

Avoid aspartame’s

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11
Q

What are the features of homocystinuria?

A

Tall stature
Intellectual disability
Ectopia lentísimo (downward dislocation of the lens)
Osteoporosis
Recurrent thrombosis

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12
Q

What is the pathophysiology of homocystinuria?

A

Due to a deficiency of cystathionine beta-synthase

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13
Q

How is homocysteine diagnosed?

A

Elevated methionine
Elevated homocysteine levels

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14
Q

How is homocysteine diagnosed?

A

High dose pyridoxine

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15
Q

What differentiates homocystinuria from marfan syndrome?

A

Autosomal recessive
IQ down
Lens dislocation down

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16
Q

What differentiates Marfan syndrome from homocystinuria?

A

Autosomal dominant
IQ up
Lens dislocation up

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17
Q

What condition is associated with black urine?

A

Alkaptonuria

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18
Q

How is alkaptonuria diagnosed?

A

Homogentisic acid in urine

19
Q

Features include failure to thrive, hepatomegaly, renal tubular acidosis (Fanconi syndrome) and radiographic fraying of rickets?

A

Tyrosinaemia type 1

aka hepatorenal tyrosinaemia

20
Q

How is tyrosinaemia diagnosed?

A

Elevated plasma and urine succinylacetone levels

21
Q

What are the key findings of urea cycle disorders?

A

Very high ammonia (>1000)
Respiratory alkalosis

22
Q

What are the laboratory findings in MCAD?

A

Hypoketotic hypoglycaemia
Hyperammonaemia
Elevated C6, C8 and C10 carnitine esters on plasma acylcarnitine profile

23
Q

Which condition can present with cataracts and hypoglycaemia?

A

Galactosaemia

24
Q

What are the features of galacetosaemia?

A

Cataracts
Hypoglycaemia
Vitreous haemorrhage
Jaundice
Hepatosplenomegaly

25
Q

Which condition presents with positive urine reducing substances?

A

Galacetosaemia

26
Q

What is a the possible complications of galactosaemia?

A

E. coli sepsis

Ovarian failure
Amenorrhoea

27
Q

What are the features of Pompe disease?

A

Muscle wasting
Cardiomegaly
Macroglossia

28
Q

What is the pathophysiology of McArdle Disease?

A

Deficiency of muscle phosphorylase which is required in the conversion of glycogen to glucose

Hence a lack of glucose in the muscle causes pain or cramps on exercising

29
Q

What are the features of McArdle disease?

A

Exercise induced cramps/ exercise intolerance
Can cause rhabdomyolysis
Elevated CK levels at rest

30
Q

Which condition should be considered in infants who are given juice/ fruit for the first time?

A

Fructose 1, 6 diphosphate deficiency

31
Q

What are the features of mucopolysaccharidoses?

A

Initially appear normal however with the accumulation of mucopolysaccharides the patient develops:
Coarse facial features
Organomegaly
Bony deformities
Developmental regression
Sensory loss (hearing and vision)

32
Q

What do the eyes appear like in Hurler Syndrome (MPS type 1)?

A

Cloudy corneas

33
Q

What do the eyes appear like in Hunter Syndrome (MPS type 2)?

A

No cloudy cornea

Remember Hunters have sharp vision therefore no clouding of the cornea

34
Q

What is the pathophysiology of Gaucher disease?

A

Due a deficiency of glucocereborsidase enzyme which leads to deposition of glucocerebroside in cells of the macrophage-monocyte system

This causes deposition in the spleen causing enlarged spleen and thrombocytopenia

35
Q

What are the features of Gaucher Disease?

A

Enlarged spleen - very significant
Bone pain
Hyperpigmentation
Thrombocytopenia
Anaemia

36
Q

What is the pathophysiology of Niemann-Pick disease?

A

Lipid storage disorder due to a deficiency of acid sphingomyelinase enzyme

37
Q

What are the features of type A Niemann Pick disease?

A

Common in Ashkenazi jews
Hepatosplenomegaly
Progressive loss of motor skills
Cherry-red spot

38
Q

Which condition presents with episodic pain in the hands and feet, anihidrosus and corneal opacities?

A

Fabry Disease

39
Q

What is the pathophysiology of Fabry disease?

A

Deficient activity of lysosomal enzyme alpha galactosidase

40
Q

What diagnosis would seizures to auditory stimuli and cherry red spots point you in the direction of?

A

Tay-Sachs disease

41
Q

Which condition is associated with self mutilating behaviours (biting fingers and lips)?

A

Lesch-Nyhan disease

42
Q

How is the anion gap calculated?

A

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

Normal anion gap is 8-12

43
Q

When a patient is lacking small intestine - how should they be fed?

A

Perenteral nutrition

44
Q
A

TAS Revision (14 decks)

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