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Paediatrics RACP Exam Study > Paediatric Metabolic Disease > Flashcards

Paediatric Metabolic Disease Flashcards

1
Q

What type of metabolic disease is associated with hypoglycaemia, acidosis, ketosis and hyperammoniaemia?

A 
Disorders of organic acids.
Sick neonates (septic) more common than metabolic
Significantly deranged - e.g. ammonia 700, pH<7
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2
Q

What disorder is associated with 2nd/3rd toe syndactyly, hypotonia, upturned nares, abnormal genitalia?

A

Smith-Lemli-Opitz syndrome (cholesterol synthesis disease), 1/70000

7-dehydrocholesterol

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3
Q

How much lower should CSF glucose be than blood glucose?

A

Should be 60% of blood glucose or higher

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4
Q

What do we measure in Menkes disease?

A

Copper and ceruloplasmin

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5
Q

What do we test for in Newborn Screening?

A
  • Amino acid disorders (for example PKU and MSUD)
  • Fatty acid oxidation disorders (for example MCAD)
  • Congenital hypothyroidism
  • Cystic fibrosis (CF)
  • Congenital adrenal hyperplasia (CAH)
  • Galactosaemia
  • Biotinidase deficiency
  • Severe combined immune deficiency (SCID)
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6
Q

Which parts of the tyrosine pathway are affected with hyperphenylalaninemia/PKU?

A

Deficiency of the enzyme phenylalanine hydroxylase (PAH) or of its cofactor tetrahydrobiopterin (BH 4 ) causes accumulation of phenylalanine in body fluids and in the brain.

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7
Q

What is tyrosine a precursor for?

A
  • Dopamine
  • Noradrenaline + adrenaline
  • melanin
  • thyroxine
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8
Q

How do you treat tyrosinaemia Type 1?

A

Nitisinone (inhibits tyrosine degradation at 4-HPPD)

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9
Q

Where is the mutation for tyrosinaemia type 1 and what does it encode?

A

Fumarylacetoacetate hydrolase ( FAH ) maps to chromosome 15q 25.1

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10
Q

What are the typical ocular findings of albinism?

A
  • hypopigmentation and macular hypoplasia
  • No binocular vision/depth perception because nerve fibers from the temporal side of the retina cross to the contralateral hemisphere of the brain.
  • alternating strabismus
  • characteristic pattern of visual-evoked potentials
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11
Q

What metabolic disorder is associated with lens subluxation?

A

Homocystinuria

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12
Q

Which type of metabolic disorder presents “in a coma with normal bloods”?

A

Aminoacidopathies e.g. MSU disease

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13
Q

Which metabolic disorder mimics Marfan syndrome?

A

Homocystinuria

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14
Q

What gene encodes the GLUT 1 transporter?

A

SLC2A1

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15
Q

What is the diagnostic test for Smith-Lemli-Opitz syndrome?

A
  • inborn error of cholesterol synthesis.
  • AR, caused by mutation in 7-Dehydrocholesterol reductase (DHCR7)
  • 7 DHCR level - will be high
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16
Q

What would you expect to be elevated in a peroxisomal disorder e.g. Zellweger syndrome?

A

Very long chain fatty acids

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17
Q

Where are peroxisomes found?

A

All cells except erythrocytes. The highest concentration of peroxisomes is in the liver and kidney.

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18
Q

Hypotonic infant with absent reflexes, moderately severe hepatomegaly. Facies: high forehead, hypoplastic supraorbital ridges with upward slanting eyes, epicanthal folds, low and broad nasal bridge think of:

A
  • Zellweger Syndome
  • 1/50000 - 1/100000 AR, presents at birth, survival 6/12

Also have:

  • Hearing, vision impairment (cataracts, pigmentary retinopathy)
  • Seizures
  • large anterior fontanelle and separated sutures
  • high arched palate
  • Deformed earlobes
  • Cirrhosis/biliary dysgenesis
  • Kidney disease
  • chondrodysplasia punctata 50-70%.
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19
Q

Baby well at birth then presents in the first week with toxic encephalopathy - vomiting, poor feeding, seizures and abnormal tone, and lethargy progressing to coma. Bloods: acidosis, ketosis, hyperammonaemia, abnormal liver function tests, hypoglycemia, and neutropenia. Most likely metabolic issue?

A

Organic acid disorder

20
Q

Baby well at birth and for 1st 24hrs then irritable, refusing feeds, vomiting, increasing lethargy. Soon after, seizures, hypotonia (poor muscle tone, floppiness), respiratory distress (respiratory alkalosis), and coma may occur. Most likely metabolic issue?

A

Urea cycle disorder

High ammonia

21
Q

Big liver and fasting hypoglycaemia think…

A
  • GSD

- Fructose 1-6 diphosphatase/gluconeogenesis issue

22
Q

Aside from carnitine deficiency, carnitine is used in…

A

Organic acidemia like MMA, helps excrete organic acids

23
Q

The metabolic disorder most likely in a boy with corneal opacity, decreased sweating and angiokeratomas on skin +/- vascular disease of kidney, heart and brain is:

A

Fabry disease, features are due to vascular glycosphingolipid deposition

24
Q

What are the clinical features of undiagnosed PKU?

A
  • > 6/12
  • seizure, neurodevelopmental +/- microcephaly
  • prominent jaw, wide teeth, enamel hypoplasia
  • ‘mousey’ smell
  • lighter and smaller than siblings
25
Q

What causes chondrodysplasia punctata / punctate calcifications on x-ray?

A

Peroxisomal disorders (e.g. Zellweger) or warfarin.

26
Q

What disease is associated with high succinylacetone in serum and urine?

A

Tyrosinemia Type 1

27
Q

What disease is associated with high phytanic acid levels and what is the associated phenotype?

A
  • Refsum disease (peroxisomal)
  • PHYH 90%
  • Retinitis pigmentosa, progressive sensory-motor neuropathy, cerebellar ataxia
28
Q

What is the disease with the typical presentation of 4/12 infant with hypoglycaemia and intermittent diarrhoea who on examination has hepatomegaly, no splenomegaly, and fat cheeks?

A
  • Type 1 glycogen storage disease
  • 1b comes wih recurrent bacterial infections and IBD
  • Type 3 GSD similar but NORMAL LACTATE
29
Q

What disease do you suspect in a 4 month old “floppy baby” with cardiomegaly (dilated cardiomyopathy)?

A
  • Pompe (GSD II)
  • Glycogen builds up in lysosomes then spills over into cytoplasm
  • Treat with recombinant human acid α-glucosidase (alglucosidase alfa, Myozyme or Lumizyme)
30
Q

Recurrent hypoglycemia associated with intercurrent illness in the absence of metabolic acidosis or other electrolyte imbalances is suggestive of…

A

Carnitine deficiency

31
Q

What disease do you suspect in a 3 year old with developmental delay + regression, HSM and vertical supranuclear gaze palsy (halting/stuttering gaze with looking up and down at objects)?

A
  • Neimann-Pick type C

- Gene test

32
Q

In which metabolic disorder do you see foamy macrophages?

A
  • Neimann-Pick

- (also TB, chlamydia and toxo)

33
Q

What disorders are associated with funny tissue paper cytoplasm (Gaucher cells)?

A

Gaucher (obviously)

34
Q

A seven year old boy presents with a 6 month history of fatigue and increasing abdominal distension. Examination reveals gross hepatosplenomegaly. Investigations show anaemia and thrombocytopenia, with other cell lines normal, renal/liver function normal aside from Ca just over the upper limit of normal. What is the most likely diagnosis?

A
  • Gaucher
  • 2/3 of bone pain, cytopenias and HSM
  • elevated Ca may be related to bony destruction
35
Q

What causes the distal femur to look like a conical flask?

A
  • CHONG
  • Craniometaphyseal dysplasia
  • Haematological - e.g. thalassemia, sickle
  • Osteopetrosis
  • Neimann-Pick
  • Gaucher
  • also Chronic lead poisoning.
36
Q

A 15 week old, previously well girl with initial normal development presents with regression, hypotonia and lethargy with normal labs. Examination: hypotonia, poor head control, lethargy, unable to fix/follow. What is the likely diagnosis?

A
  • Tay Sachs Disease
  • progressive neurological degeneration
  • may also startle easily to noise
37
Q

1 week old with cataracts who has not regained birthweight, vomiting since breast fed, and comes in with e. coli sepsis has:

A
  • Galactosemia

- look for the Guthrie - hopefully it’s been done!!

38
Q

In which metabolic disorder do you see self-injury?

A

Lesch-Nyan (biting lips)

39
Q

What are the major differences between the mucopolysaccharoidoses?

A
  • Hurler has eye involvement
  • Hunter is X linked, no eye involvement
  • Sanfilipo mostly CNS
  • Morquio truncal dwarfism, can be missed on urinary GAG
40
Q

What metabolic syndromes are associated with dermal melanocytosis?

A
  • Hunter
  • Hurler
  • Niemann Pick
  • Gangliosidosis type 1
41
Q

What are the classical findings in Gaucher disease?

A
  • Bone pain, cytopenias and HSM

- Investigation shows conical flask distal femur, Gaucher cell

42
Q

What metabolic disorder is associated with inverted nipples?

A
  • Congenital disorder of glycosylation 1a

- Also get neurological component with cerebellar hypoplasia, psychomotor retardation and alternating varied strabismus

43
Q

What are the key features of carnitine deficiency?

A
  • Cardiomyopathy
  • Skeletal muscle weakness
  • Fasting HYPOKETOTIC hypoglycaemia
  • may be dead in bed with high amounts of fat in tissues as carnitine needed for oxidation
44
Q

What are the key features of Tay-Sachs?

A
  • AR, HEXA gene, buildup of GM2 ganglioside
  • initially normal - make it to fix/follow/smile
  • progressive macrocephalic
  • regress, increased startling and loss of skills
  • eventually blind, deaf, seizures
  • red spots on macula
45
Q

How do you differentiate GSD-1 and GSD-3?

A

GSD-3 can be differentiated from GSD-1 by hypotonia, weakness, wasting of skeletal muscle, and involvement of the heart. It also has NO lactic acidosis

46
Q

What medications might you give to treat hyperammonaemia?

A
  • Sodium benzoate 250 mg/kg
  • Sodium phenylacetate 250 mg/kg
  • Arginine hydrochloride 200-600 mg/kg as a 10% solution

Paediatrics RACP Exam Study (30 decks)

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