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Metabolism Flashcards

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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

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

Mx hyperammonia

Study These Flashcards
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

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

Ix hypoglycaemia

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A

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

23
Q

Causes hyperammonaemia

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

Glycogen storage disorders subgroups

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A

Hepatic
Muscular
Cardiac

25
Features Hepatic glycogen storage disorders
Associated with hypoglycaemia | .e.g. GSD type 1 glucose-6-phosphatase deficiency
26
Features muscular glycogen storgae disorder
.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
Lysosomal storage disorders features
``` Enzyme deficiency Inability to break down specific chemicals Visceral storgae (hepatosplenomegaliy) CNS involvement with developmental regression and seizures ```
28
Ix Lysosomal storage disorders
Urinary glycosaminoglycan and oligosaccharide screen Blood testing of white cell enzymes Secific enzymology testing
29
Examples lysosomal storage disorders
``` Mucopolysaccharidoses Oligosaccharidoses (mannasidosis) Muclipidoses (l-cell disease) Sphingolipidoses (Fabry disease) ```
30
Typical Hx mucopolysaccharidoses
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
Clinical features mucopolysccharidoses
``` 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
Mucopolysaccharidoses Types
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
Mx Mucopolysccharidoses
``` Supportive Enzyme replacement therapy Bone marrow transplant -MPS type 1 -Cannot reverse any neurological abnormality -minimal effect on skeletal component ```
34
Features mitochondrial disease
Multisystem disease Elevated lactate MRI brain with characteristic features Affects organs with greatest energy demands .e.g. brain, heart, kidney, retinal, skeletal muscle
35
Lipid storage disorders features
Excessive fat storage causing permenant cellular and tissue damage Affects brain, CNS and bone marrow Most common example is gaucher disease
36
Features MERRF
Myoclonic epilepsy Ragged red fibres Onset 5-15y
37
Features MELAS
``` Mitochondrial encephalopathy Lactic acidosis Stroke-like episodes Myopathy Migraine Vomiting Seizures Visual and hearing disturbance Onset 5-15y ```
38
Features Alpers
Intractable sziures Liver involvement Onset in early childhood
39
Examples lipid storage disorders
Fabry (alpha-galactosidase A) Gaucher (Beta-glucosidase) Neimann-Pick disease type C (cholesterol trafficking) Wolman Disease (Lysosomal acid lipase)
40
Features familial hypercholestolaemia
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
Mx Familial hypercholestrolaemia
``` Low fat diet Statins from aged 8y Ezetimibe (homozygous patients) Lipid apheresis Liver transplanation ```
42
Features Fabry Disease
``` X linked Recurrent acute pain or parasthesiae in limbs Diminished sweating Angiokeratomas Males symptomatic present in childhood Females 70% asymptomatic- present >15y ```
43
Features Gaucher disease
``` Common in Jewish populations Chronic childhood form: -splenomegaly -bone marrow supprression -bone involvement Acute infantile form: splenomegaly neurological degeneration with seizures ```
44
Mx Gaucher disease
Enzyme replacement therapy | Carrier detection and prenatal Dx
45
Features Niemann-Pick disease Type C
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
Prognosis Neimann-Pick
Infantile: can be fatal, usually improves Juvenile: Death 7y to adulthood
47
Features Wolman disease
``` Presents in neonatal period Severe growth faltering Steatorrhiea Massive hepatosplenomegaly Adrenal calcification (Xray) Fatal within 1y ```

Paediatrics (22 decks)

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