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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

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4
Q

How is GA1 treated?

A

Specialist diet
Avoidance of fasting
Daily carnitine

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4
Q

How does isovaleric acidaemia present?

A

Metabolic acidosis +/- hyperammonaemia

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5
Q

What is the prevalence of homocystinuria?

A

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

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6
Q

How does homocystinuria present?

A

Marfanoid appearance
LDs
Lens dislocation
Osteoporosis
Thromboembolism

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7
Q

How is homocystinuria treated?

A

Low protein diet
Pyridoxine
Folic acid

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8
Q

What is the prevalence of maple syrup urine disease?

A

1 in 185000

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9
Q

How does maple syrup urine disease present?

A

Progressive encephalopathy in first week of life

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10
Q

How is maple syrup urine disease treated?

A

Low protein diet

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11
Q

What is the primary disturbance in respiratory acidosis?

A

Raised PCO2

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12
Q

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

A

Low pH
Raised PCO2
-ve BE

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12
Q

What is the bodies compensatory response to respiratory acidosis?

A

Raised bicarbonate

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13
Q

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

A

Low pH
pCO2 normal or low
BE -ve

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13
Q

What is the primary disturbance in metabolic acidosis?

A

Low bicarbonate

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14
Q

What is the bodies compensatory response in metabolic acidosis?

A

Lowers PCO2

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14
Q

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

A

High pH
PCO2 low
BE +ve

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14
Q

What is the primary disturbance in respiratory alkalosis?

A

Lowered PCO2

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15
Q

What is the bodies compensatory response in respiratory alkalosis?

A

Low bicarbonate

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15
Q

What is the primary disturbance in metabolic alkalosis?

A

High bicarbonate

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16
Q

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

A

High pH
PCO2 normal or high
BE +ve

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17
Q

What is the bodies compensatory response in metabolic alkalosis?

A

Raised PCO2

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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

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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

What is it essential to supplement in the diet of a child with PKU?

A

Tyrosine

24
Q

What is Barth syndrome?

A

X-linked disorder affecting cardiolipin metabolism

25
Q

What features suggest a diagnosis of Barth syndrome?

A

Male sex
Dilated cardiomyopathy
Neutropenia
Poor feeding and faltering growth

26
Q

What is the management of Barth syndrome?

A

Nutritional and immune support

27
Q

What is the typical blood pattern in Vitamin-D dependent rickets type I?

A

Low calcium
High PTH
Normal Vit D
Low 1,25-dihydroxycholecalciferol

28
Q

What causes Vitamin-D dependent rickets type I?

A

1a-hydroxylase deficiency - meaning kidneys are unable to convert vitamin D to 1,25-dihydroxycholecalciferol

28
Q

Which enzyme is essential for transporting fatty acids from adipose tissue to mitochondria?

A

Carnitine acyltransferase I

29
Q

How does Refsum’s disease present?

A

Nocturnal visual loss
Anosmia
Retinitis pigmentosa
Progresses to cerebellar disease, neuropathy and cardiomyopathy

29
Q

What is Refsum’s disease?

A

Fatty-acid-oxidation defect where phytanic acid is increased in the serum

30
Q

What genetic mutation is associated with Refsum’s disease?

A

PHYH gene mutations

31
Q

In urea cycle disorders what is the typical blood abnormalities which are generally present in all?

A

Very high ammonia
High glutamine
High alanine
Low/High arginine - depending on defect

32
Q

What is the most specific test for galactosaemia?

A

Reduced or absent galactose-1-phosphate uridyltransferase enzyme

32
Q

What does MELAS stand for?

A

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes

32
Q

when does galactosaemia typically first present?

A

End of first week of life

32
Q

How does galactosaemia typically present?

A

Jaundice with liver function deterioration
Sepsis common (predisposition for e.coli)
Sick infant with raised ammonia

33
Q

How is galactosaemia treated?

A

Lactose and galactose-free diet

34
Q

What most commonly causes MELAS?

A

Defects in mitochondrial transfer RNA molecules

35
Q

What is non-ketotic hyperglycinaemia?

A

Inherited metabolic disorder where patients cannot break down glycine

36
Q

What is the typical history of non-ketotic hyperglycinaemia?

A

Apnoea
Seizures in utero
Hiccups

37
Q

What is the management of non-ketotic hyperglycinaemia?

A

Sodium benzoate to lover plasma glycine
Dextromethorphan to block glycine’s central action

38
Q

What is Gaucher’s disease?

A

Rare, inherited disorder with decreased levels of glucocerebrosidase

38
Q

What happens to children with fatty acid oxidation defects during fasting or illness?

A

Hypoketotic hypoglycaemia

39
Q

What are the carnitine levels like in a patient with a fatty acid oxidation defect?

A

Free total free carnitine
Abnormal plasma acylcarnitine profile

39
Q

How does Gaucher’s disease present?

A

Displacement of healthy cells in bone marrow
Hepatosplenomegaly
Organ dysfunction
Skeletal deterioration

40
Q

What is the treatment for fatty acid oxidation defects?

A

Avoid fasting
Restrict fat
Encourage carbohydrate supplementation

40
Q

Which enzyme are children deficient in with PKU?

A

Phenylalanine hydroxylase

41
Q

What plasma level is elevated in Gaucher’s disease?

A

Acid phosphidase

42
Q

What is the blood profile in Vitamin-D resistant rickets (aka X-linked hypophosphataemic rickets)?

A

Low phosphate
Normal calcium
Normal/low vitamin D

42
Q

What causes vitamin-D resistant rickets?

A

Renal phosphate wasting secondary to a renal tubular defect in phosphate transport and likely impaired intestinal absorption of calcium

43
Q

What does NARP stand for?

A

Neuropathy, ataxia and retinitis pigmentosa

43
Q

What are the symptoms of GLUT1 deficiency syndrome?

A

DD
Seizures which are difficult to control
Low CSF glucose (usually <2.2)

44
Q

Hoes does NARP present?

A

Sensory neuropathy and ataxia +/- LDs, seizures and cardiac conduction defects

44
Q

What is dysfunctional in NARP?

A

ATP synthase

45
Q

What fluid should be given for maintenance in a child with a fatty oxidation metabolism disorder?

A

10% dextrose - unless personalised plan known

46
Q

How does molybdenum cofactor deficiency typically present?

A

Neurodegenerative condition - presents with early-onset refractory seizures

47
Q

How is molybdenum cofactor deficiency diagnosed?

A

Positive sulphites on urine dipstick
Urinary xanthine may be high
Confirmed by further urinary purine studies

48
Q

What causes OTC deficiency?

A

Inability to form citrulline from ornithine and carbamoyl - leads to increased serum and urine conc. of orotic acid

48
Q

What is the most common urea cycle disorder?

A

Ornithine transcarbamylase (OTC) deficiency

48
Q

Which lipid does apolipoprotein CII deficiency typically cause elevated levels of?

A

Triglycerides

48
Q

How is molybdenum cofactor deficiency inherited?

A

AR

49
Q

What is the treatment for biotinidase deficiency?

A

Oral biotin supplementation

49
Q

How does biotinidase deficiency present?

A

Progressive neurological symptoms (hearing and vision)
Rash +/- hair loss

50
Q

What is tyronsinaemia?

A

AR disorder leading to progressive liver failure, neurological disease and renal tubular acidosis

51
Q

What is positive in the urine in classical tyrosinaemia?

A

Succinylacetone

52
Q

What are the characteristic features of mucopolysaccharidoses type IV?

A

Short stubby fingers
Short stature
Corneal opacities
Dysostosis multiplex with hypoplasia of odontoid process
Hypermobility
Cardiac valve abnormalities

53
Q

What are the typical features of homocystinuria?

A

Marfanoid habitus
Intellectual disability
Thromboembolism
Ectopia lentis

54
Q

How is homocystinuria inherited?

A

AR

55
Q

What level is raised on newborn blood spot test in MSUD?

A

Leucine

56
Q

How does Kearns-Sayre syndrome present?

A

Progressive ophthalmoplegia
Ptosis
Cardiac conduction abnormalities

57
Q

What is typically raised in the CSF in Kearns-Sayre syndrome?

A

Lactate

58
Q

What is deficient in citrullinaemia?

A

Arginosuccinate synthetase

59
Q

What is Leber’s hereditary optic neuropathy?

A

Mitochondrial disorder which presents in late childhood to early adulthood with unilateral or bilateral progressive visual loss

60
Q
A
60
Q
A

1MRCPCH FOP and TAS (23 decks)

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