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Paeds BPT Written Exam > Metabolic > Flashcards

Metabolic Flashcards

1
Q

Which amino acids accumulate in maple syrup urine disease?

A

Leucine (most toxic)
Isoleucine
Valine

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2
Q

Clinical features of maple syrup urine disease?

A

Well at birth then symptomatic in first days -weeks of life with
- poor feeding
- vomiting
- lethargy
- loss of Moro reflex
- hypertonia and muscle rigidity (may have intermittent flaccidity), opisthotonus
- maple syrup urine smell
- seizures

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3
Q

What lab investigations would you find in MSUD

A
  • Elevated amino acids (leucine, isoleucine, valine)
  • high anion gap metabolic acidosis
    +/- hypoglycaemia with ketosis
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4
Q

Clinical features of PKU

A
  • Fair skin and hair
  • vomiting
  • irritability
  • eczematoid rash
  • peculiar, “mousy” odour
  • can develop low IQ if not detected early
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5
Q

Management of PKU

A

Dietary restriction of phenylalanine for life (can have a small amount + need SOME tyrosine in diet)

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6
Q

Features of tyrosinemia type 1

A

Hepatorenal type, present ~2-6months with
- hepatomegaly that progresses to hepatic adenomas -> hepatoblastomas -> liver failure
- failure to thrive
- renal tubular acidosis resembling Fanconi syndrome
- rickets

due to deficiency of fumarylacetoacetate hydroxyls (final step in tyrosine metabolism pathway)

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7
Q

Features of homocystinuria

A
  • Ectopia lentis (downward like the IQ)
  • myopia
  • iridodenesis
  • similar habitus to Marfans syndrome: tall, lean, long limbs, erachnodactyly, pectus excavatum or carinatum, high arched palate, teeth crowding
  • increased risk of venous and arterial thromboembolism
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8
Q

Lab findings in methylmalonic acidemia

A

Presents in first few days of life with:
- Ketotic hypoglycaemia
- Metabolic acidosis
- High ammonia (not as high as urea cycle defects)
- Urine organic acid: elevated methylmalonic acid and abnormal ketones bodies
- May have cytopenias

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9
Q

Presentation of methylmalonic academia

A

Early onset form (first few days of life)
- Hyperammonemia
- Ketoacidosis and severe metabolic acidosis
- Thrombocytopenia
- Sepsis like picture with feeding problems, vomiting, lethargy, hypotonia

Can present later with FTT, vomiting, chronic ketotic hyperglycinemia

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10
Q

Metabolic condition with high ammonia (>1000)

A

Urea cycle defect (Eg OTC deficiency)

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11
Q

Causes of hypoketotic hypoglycemia

A
  • Fatty acid oxidation defects (eg MCAD deficiency)
  • hyperinsulinemia
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12
Q

Clinical features of VLCAD deficiency

A

More severe than MCAD deficiency + usually presents earlier with hypoglycaemia with fasting, muscle weakness and muscle pain, rhabdomyolysis. Can have cardiomyopathy associated with fasting

Typically affects heart and skeletal muscles

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13
Q

Features of MCAD deficiency

A

Usually present first 3mo-5yrs with:
- fasting associated hypoketotic hypoglycemia, lethargy +/- vomiting
- elevated transaminases and CK whilst fasting
- little-no metabolic acidosis

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14
Q

Presentation of X-linked adrenoleukodystrophy

A

Onset ~4-8yrs with
- hyperactivity
- impaired auditory discrimination and spatial awareness
- seizures
- mild hypopigmentation
- adrenal dysfunction (later)

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15
Q

Examples of x-linked lysosomal storage disease

A

Fabry disease - usually presents in adolescents/adults with pain crisis, angiokeratomas, reduced sweating

MPS II (Hunter syndrome)

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16
Q

Features of Tay-Sachs

A
  • Initially normal, then regress, then die by 2-5yrs
    • Enhanced startle reflex to noise or light
    • Progressive loss of motor skills
    • Axial hypotonia with extremity hypertonia
    • Hyperreflexia
      Macular cherry red spot
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17
Q

Features of glycogen storage diseases

A

Presents ~3-4 months old with:
- Hepatomegaly with ~normal LFTs
- Ketotic Hypoglycemia
- Lactic acidosis, hyperuricemia, hyperlipidemia
- FTT

“doll like facies” with fat cheeks, thin extremities

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18
Q

Management of homocystinuria

A

Vitamin B6 (pyridoxine)
Diet low in methionine (which gets broken down into homocysteine)
Betaine (converts homocysteine back to methionine)

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19
Q

Cause of galactosemia

A

Deficiency of enzyme GALT, causing galactose to be metabolised poorly or not at all -> build up in liver, kidneys, brain

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20
Q

E coli sepsis think of which metabolic condition

A

Galactosemia

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21
Q

Features of Pompe Disease (GSD Type II)

A

infantile form = severe
- hypertrophic cardiomyopathy (high voltage QRS and shorted PR on ECG)
- hypotonia
- weakness
- macroglossia
- FTT
- hepatomegaly

Juvenile form
- progressive MSK manifestations

Elevated CK, AST, LDH

22
Q

Coarse facies, midface hypoplasia
CORNEAL CLOUDING
inguinal/ umbi hernia
macrocephaly +/- hydrocephalus
hepatosplenomegaly
early coronary artery disease

A

Hurler syndrome (MPS 1)

23
Q

Differences between Hurler syndrome (MPS 1) and Hunter Syndrome (MPS 2)

A

Hurler syndrome have corneal clouding
Hurler syndrome = AR, Hunter syndrome = XLR

(Hunters will be boys who need their eyesight to hunt)

24
Q

Features of Zellweger Spectrum Disorder (Peroxisomal disorder)

A
  • Regression
  • High forehead, broad nasal bridge, anteverted nares
  • Large fontanelle
  • Cataracts
  • Hearing and Vision loss
  • Abnormal LFTs and jaundice
  • Calcific stippling of long bones

Most die by age 1

25
Q

Treatment of hyperammonemia?

A

Sodium benzoate and sodium phenylbutyrate
or
Dialysis

26
Q

Onset of lethargy, nausea, vomiting with eating fruit?

A

Hereditary fructose intolerance
- occurs due to deficiency of aldolase B -> build up of fructose 1 phosphate
- also causes proximal tubule dysfunction and liver damage (hepatomegaly, jaundice, hypoglycemia)

27
Q

Features of galactosemia

A
  • Presents early (with BF)
  • build up of galactose in liver + brain
    -> N, V, D, hepatomegaly, jaundice, poor feeding + FTT
  • > seizures, ID
28
Q

How many kcal per gram of fat, protein, carbohydrate

A

9kcal/g of fat
4kcal/g of carbs and protein

29
Q

Features of Gaucher Disease?

A

Accumulation of large fatty macrophages in RES
- bone pain
- thrombocytopenia and anaemia
- hepatoSPLENOMEGALY
- Neuronopathic types 2+3 - feeding difficulties, opisthotonus/posturing, macular cherry red spots, early death

30
Q

What is X-linked adrenoleukodystrophy

A

Disorder of oxidation of VLCFAs
Results in severe inflammatory demyelination typically of the periventricular deep white matter (posterior predominant)

31
Q

Group of metabolic disorders that commonly causes a respiratory alkalosis

A

Urea cycle defects

32
Q

What would you expect to be abnormal in familial hypercholesterolemia?

A

Elevated LDL
Elevated total cholesterol
(HDL and triglycerides usually normal)

FH is due to mutations in apolipoprotein B and PCSK9

33
Q

Features of cystinosis

A

Fanconi syndrome (proximal tubule)
Poor weight gain
Rickets
Hepatosplenomegaly
Corneal deposits
Fair skin and eyes

Management:
cysteamine

34
Q

Metabolic causes for rhabdomyolysis

A

LCHAD and VLFCAD (after long periods of exercise)

GSDs (particularly type V- McArdles) after short periods of exercise

35
Q

Hepatomegaly, fasting hypoglycaemia, short stature

A

Think Glycogen storage disorder

36
Q

Causes of ketotic hypoglycaemia

A
  1. GSD 1, 3, 6, 9
  2. Hereditary fructose intolerance
  3. Organic academies (eg MMA)
  4. Ketone utilisation disorders
  5. Idiopathic
37
Q

Features of Zellweger spectrum disorder (Peroxisomal Biogenesis Disorder)

A

Think “hepatocerebrorenal” syndrome
- Heptamegaly, cholestasis, cirrhosis, biliary dysgenesis, and coagulopathy
- GDD, Hypotonia, weakness, absent reflexes, hearing + vision loss
- Cystic kidney disease
- Calcific stippling of bones
- Facial dysmorphism

38
Q

Clinical features of Menkes Disease (kinky hair syndrome)?

A

Features of severe copper deficiency:
- Developmental delay and epilepsy in early infancy
- ‘kinky’ wirey hair
- Progressive neurological symptoms
- growth failure
- skin hypopigmentation
- osteoporosis and spur formation

It is X-linked

39
Q

Key features of Lesch- Nyhan syndrome

A
  • Choreoathetosis or dystonia
  • Eventual hypertonia with spasticity and hyperreflexia
  • Self mutilating behaviour
40
Q

Carriers of Gaucher Disease are at increased risk of what?

A

Parkinsons Disease

41
Q

Which metabolic condition is associated with a low CSF glucose: blood glucose ratio (<0.6)?

A

GLUT-1 deficiency

42
Q

Normal response to hypoglycemia?

A

Suppressed Insulin (levels should be undetectable)
Production of cortisol, adrenaline, GH, ketones

43
Q
A
44
Q

Metabolic condition in which narcolepsy and cataplexy are common?

A

Niemann Pick Disease type C (caused by intralysosomal accumulation of cholesterol)

45
Q

Lab finding in peroxisomal disorders (eg Zellweges spectrum (incl resfum), adrenoleukodystrophy)?

A

Elevated VLCFAs

46
Q

What is acid alpha glucosidase?

A

An enzyme that helps break down glycogen in the lysosome. It is deficient in Pompe disease (GSD II) and this is one of the tests

47
Q

What disease are urinary glycosaminoglycans elevated?

A

Mucopolysaccharidoses (eg Hunter, Hurler syndrome)

48
Q

ABCD1 gene mutation -> peroxisomal disorder with lack of oxidation of very long chain fatty acids -> build up on very long chain fatty acids in CNS and adrenal cortex.

A

X-linked adrenoleukodystrophy

49
Q

Management of X-linked adrenoleukodystrophy

A

Glucocorticoids for adrenal insufficiency
HSCT as soon as mild features of leukodystrophy present

50
Q

Complete absence of galactose-1-phosphate uridyl transferase (GALT) in red bloods cells suggests which metabolic condition?

A

Galactosemia

51
Q

Metabolic disorders that can present with subdural haematoma and retinal haemorrhages?

A

Type 1 glutaric acidemia
Menkes disease

52
Q

Deficiency of lysosomal alpha galactosidase in plasma, leukocytes and cultured skin fibroblasts suggests which metabolic condition

A

Fabry disease
A sphingolipodises that is XLR, presents in adolescence with severe episodic pain in hands and feet triggered by heat exposure or fever

Paeds BPT Written Exam (18 decks)

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