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Paediatrics > Metabolism > Flashcards

Metabolism Flashcards

1
Q

Presentation Metabolic Disorders

A 
Unexpected severe presentation of common illness
Significant metabolic acidosis
Unexplained respiratory alkalosis
Hypoglycaemia
Cardiac failure / cardiomyopathy
Hepatomegaly/hepatosplenomegaly
Drowsiness, coma, irritability
Early onset seizure
Dysmorphic features
Developmental regression or loss of skills
Sudden unexplained death
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2
Q

First line Ix suspected metabolic disorder

A

Bloods:
- Aminoacids and acyl carnitines (urea cycle disorder, organic acidaemia, aminoacidopathy)
-Ammonia (urea cycle disorder)
-Beutler screning test (galactosaemia)
-Very long chain fatty acids (peroxisomal disorder)
-White cell enzymes (dysmorphism, organomegaly, learning difficult, developmental regression)
-lactate (mitochondrial, glycogen storage disorder)
Urine:
-Organic acids (organic acidaemia, fatty acid oxidation disorder)
-Amino acids (tubulopathy, cystinosis)
-Glycoaminoglycans and oligosaccharides (mucopolysaccharidoses, oligosaccharidoses)

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3
Q

Management principles of metabolic disorder

A

Symptomatic therapy .e.g. antivonvulsants, analgaesua
Specific therapy .e.g. ammonia scavengers
Enzyme replacement

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4
Q

Dietary manipulation principles in metabolic disorder

A

Supply of deficient product
Preventing toxic accumulation
Prevention of catabolism
Ketogenic diet

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5
Q

Newborn screening

A

Newborn babies on day 5-7

  • cystic fibrosis
  • congenital hypothyroidism
  • phenylketonuria
  • haemaglobinopathies
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Glutaric aciduria type 1
  • Isovaleric acidaemia
  • Homocystinuria
  • Maple syrup urine disease
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6
Q

Late presentation and Mx PKU

A

Learning difficulty
Seizures
Microcephaly
Mx: phenyalanine restricted diet

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7
Q

Late presentation and Mx MCAD

A

Encephalopathy (rapidly progressive)
Collapse after prolonged fast
Non-ketotic hypoglycaemia
Mx: avoidance of fasting and provision of emergency regimen

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8
Q

Late presentation and Mx Glutaric aciduria type 1

A

Macrocephaly
Encephalopathic crisis aged 6-18m
Dystonic-dyskinetic movement disorder
Mx: specialist diet, avoidance of fasting, daily carnitine

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9
Q

Late presentation and Mx Isovaleric acidaemia

A

Metabolic acidosis
Hyperammonaemia
Mx: low protein diet, carnitine, glycine

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10
Q

Late presentation and Mx Homocystinuria

A 
Marfanoid appearance
Learning difficulty
Lens dislocation
Osteoporosis
Thromboembolism
Mx: low protein diet, pyridoxine, folic acid
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11
Q

Late presentation and Mx Maple syrup urine disease

A

Progressive encephalopathy within weeks

Mx: Low protein diet

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12
Q

Define anion gap

A

Anion gap = [Na + K} - [CL + HCO3]
Difference between the cations and anions
Normal value 10-16mmol/L
Elevated anion gap: lactic/ketoacidosis

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13
Q

Respiratory acidosis

A

↑ pCO2
↓ pH
Compensation: ↑ HCO3

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14
Q

Metabolic Acidosis

A

Normal pCO2
↓ pH
↓HCO3
Compensation: ↓CO2

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15
Q

Respiratory Alkalosis

A

↓pCO2
↑pH
Compensation: ↓HCO3

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16
Q

Metabolic Alkalosis

A

↓HCO3
↑pH
Compensation: ↑ pCO2

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17
Q

Metabolic Acidosis causes (normal anion gap)

A

Intestinal loss of base .e.g. diarrhoea

Renal loss of base .e.g. renal tubular acidosis

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18
Q

Metabolic acidosis causes (raised anion gap)

A

Diabetic ketoacidosis
Renal failure
Poisoning .e.g. salicylate, ethanol, methanol, paraldehyde
Inborn error of metabolism

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19
Q

Presentation Hyperammonaemia

A 
Unexplained encephalopathy
Respiratory alkosis (respiratory stimulant)
Recurrent vomiting
Severe illness in baby or chil
Seizures (cerebral odema)
20
Q

Mx hyperammonia

A 
Stop feeds
Start 10% dextrose
IV ammonia scavenging medications
Arginine to support urea cycle
Urgent transfer to ICU for haeofiltration
21
Q

Presentation hypoglycaemia

A 
Common first day of life
Especially Prematurity, Growth restriction, Illness 
Child seriously ill
Prolonged seizure
Altered state of consciousness
22
Q

Ix hypoglycaemia

A

Routine blood glucose measurements
Hypoglycaemia screen (identify IEM or endocrine cause)
Ketones (absence is abnormal)
Hepatomegaly- glycogen storage disorder

23
Q

Causes hyperammonaemia

A 
Urea cycle disorder
Severe illness
Liver disease
Transiently in newborn
Certain medications
24
Q

Glycogen storage disorders subgroups

A

Hepatic
Muscular
Cardiac

25
Q

Features Hepatic glycogen storage disorders

A

Associated with hypoglycaemia

.e.g. GSD type 1 glucose-6-phosphatase deficiency

26
Q

Features muscular glycogen storgae disorder

A

.e.g. GSD V (McArdle disease): deficiency of myophosphorylase
Exercise intolerance relieved by rest
Ability to utilise free glucose mobilised in the blood
At risk of rhabdomyolysis and associated AKI

27
Q

Lysosomal storage disorders features

A 
Enzyme deficiency
Inability to break down specific chemicals
Visceral storgae (hepatosplenomegaliy)
CNS involvement with developmental regression and seizures
28
Q

Ix Lysosomal storage disorders

A

Urinary glycosaminoglycan and oligosaccharide screen
Blood testing of white cell enzymes
Secific enzymology testing

29
Q

Examples lysosomal storage disorders

A 
Mucopolysaccharidoses
Oligosaccharidoses (mannasidosis)
Muclipidoses (l-cell disease)
Sphingolipidoses (Fabry disease)
30
Q

Typical Hx mucopolysaccharidoses

A

Developmental delay following normal growth and development
6-12m of age
slow developmental attainment and loss of skills
>6m characteristic facies: coarsening of features, frontal bossing

31
Q

Clinical features mucopolysccharidoses

A 
Eyes: corneal clouding
Skin: thickened, coarse facies
Heart: valvular lesion, cardiomyopathy
Neurology: developmental regression
Skeletal: thickened skull, broad ribs, claw hand, thoracic kyphosis, lumbar lordosis, gibbus (prominent lower spine)
Hepatosplenomegaly
Carpal tunnel sydrome
Conductive deafness
Umbilical and inguinal hernias
32
Q

Mucopolysaccharidoses Types

A

I Hurler AR: cornea, heart, brain, skeletal
II Hunter X-linked: Heart, brain, skeletal
III Sanflippo AR: brain, skeletal (mild)
IV Moruio AR: corneal, heart, skeletal
VI Maroteaux-Lamy AR: cornea, heart, skeletal

33
Q

Mx Mucopolysccharidoses

A 
Supportive
Enzyme replacement therapy
Bone marrow transplant
-MPS type 1
-Cannot reverse any neurological abnormality
-minimal effect on skeletal component
34
Q

Features mitochondrial disease

A

Multisystem disease
Elevated lactate
MRI brain with characteristic features
Affects organs with greatest energy demands .e.g. brain, heart, kidney, retinal, skeletal muscle

35
Q

Lipid storage disorders features

A

Excessive fat storage causing permenant cellular and tissue damage
Affects brain, CNS and bone marrow
Most common example is gaucher disease

36
Q

Features MERRF

A

Myoclonic epilepsy
Ragged red fibres
Onset 5-15y

37
Q

Features MELAS

A 
Mitochondrial encephalopathy
Lactic acidosis
Stroke-like episodes
Myopathy
Migraine
Vomiting
Seizures
Visual and hearing disturbance
Onset 5-15y
38
Q

Features Alpers

A

Intractable sziures
Liver involvement
Onset in early childhood

39
Q

Examples lipid storage disorders

A

Fabry (alpha-galactosidase A)
Gaucher (Beta-glucosidase)
Neimann-Pick disease type C (cholesterol trafficking)
Wolman Disease (Lysosomal acid lipase)

40
Q

Features familial hypercholestolaemia

A

Most common inherited disorder of lipid metabolism
Detected on cascade screening
Typically present before 5y
Lipid deposits in nasal cleft and extensor surface of elbow

41
Q

Mx Familial hypercholestrolaemia

A 
Low fat diet
Statins from aged 8y
Ezetimibe (homozygous patients)
Lipid apheresis
Liver transplanation
42
Q

Features Fabry Disease

A 
X linked 
Recurrent acute pain or parasthesiae in limbs
Diminished sweating
Angiokeratomas
Males symptomatic present in childhood
Females 70% asymptomatic- present >15y
43
Q

Features Gaucher disease

A 
Common in Jewish populations
Chronic childhood form:
-splenomegaly
-bone marrow supprression
-bone involvement
Acute infantile form:
splenomegaly
neurological degeneration with seizures
44
Q

Mx Gaucher disease

A

Enzyme replacement therapy

Carrier detection and prenatal Dx

45
Q

Features Niemann-Pick disease Type C

A

Infantile: neonatal liver disease
Juvenille: 3-15y, progressive ataxia, language delay, hepatosplenomegly, vertical supranuclear gaze palsy, cherry red spots
Adult: ataxia, dementia, psychiatric illness

46
Q

Prognosis Neimann-Pick

A

Infantile: can be fatal, usually improves
Juvenile: Death 7y to adulthood

47
Q

Features Wolman disease

A 
Presents in neonatal period
Severe growth faltering
Steatorrhiea
Massive hepatosplenomegaly
Adrenal calcification (Xray)
Fatal within 1y

Paediatrics (22 decks)

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