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BPT exams > Metabolic > Flashcards

Metabolic Flashcards

1
Q

Prenatal diagnosis of Zellweger (cerebrohepatorenal) syndrome can be achieved through?

A

Assays of peroxisomal enzymes activity (dihydroacetone-phosphate acyltransferase), peroxisomal metabolites, or molecular screening techniques. MRI performed in the third trimester can allow analysis of cerebral gyration and myelination

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2
Q

What does the peroxisome normally do?

A

Makes bile acids and plasminogen (key for cell wall structure)

Breaks down Phyntane and VLCFA

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3
Q

What does the lysosome do?

A

Helps recycle and breakdown cell particles within an acidic environment

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4
Q

Upturned nose, toes 2-3 syndactyly, tented upper lip

A

Smith-lemli-Opitz

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5
Q

How does ammonia cause respiratory encephalopathy?

A

Raises your respiratory drive and thus low CO2

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6
Q

Beaking of lumbar vertebrae

A

MPS - type I or II

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7
Q

Ketotic hypoglycaemia with elevated lactate and hepatosplenomegaly….fatty liver on imaging

A

Glycogen storage disease type I

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8
Q

Encephalopathic child with dystonia, macrocephaly

T2 hyperintensity of basal ganglia

Episode triggered by fever

A

Glutaric aciduria Type I

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9
Q

Pancytopenia, hepatosplenomegaly, hx of hip pain

A

Gaucher disease

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10
Q

What is an acylcarnitine profile?

A

Looks at fatty acid oxidation disorders

Looks at metabolites of beta oxidation

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11
Q

What does urine organic acid look for?

A

Many many disorder - looks for organic acidaemias, amino acidopathies, peroxismal disorders, disorders of neurotransmission

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12
Q

Addison’s disease is linked to _______

A

X linked adrenoleukodystrophy

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13
Q

Suspected Glycogen storage disorder with muscle weakness (at 2yo) …?

A

Glycogen Storage Type III

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14
Q

Glycogen storage disorder with neutropenia?

A

Glycogen storage Ib

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15
Q

Elevated octanylcarnitine…

A

MCAD

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16
Q

In ALD you see an accumulation of ______ due to abnormalities in _______

A

Tissue accumulation of VLCFA caused by deficiency peroxisomal degradation of FA

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17
Q

Acetyl Coa is converted to _____ which enters the electron chain transfer

A

Citrate

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18
Q

Lab findings in phenylketonuria?

A

Elevated serum and urine levels of phenylaline and low levels of tyrosine

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19
Q

Phenylketonuria is due a deficiency in which enzyme?

A

Phenylaline hydroxylase

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20
Q

How do you treat phenylketonuria?

A

You treat with Phenylaline free diet and tyrosine supplements

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21
Q

What are the risks associated with poorly controlled maternal phenylketonuria?

A

Risk of microcephaly, CHD, learning difficulties, corpus collosum hypoplasia and growth retardation in infants

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22
Q

This metabolic disorder due to reduced activity in BCKD and results in accumulation of branched amino acids (leucine, isoleucine and valine).

What is the disorder?

A

Maple syrup urine disease

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23
Q

What age group and common presentation of maple syrup urine disease?

A

Presents in the first week of life and often with encephalopathy/FTT/vomitting

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24
Q

Most common enzyme deficiency in classic homocysteinuria?

Apart from homocysteine, what else is elevated?

A

Cystathione synthetase

Elevated levels of Methanione

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25
Q

Homocysteinuria and Marfans syndrome can have similar findings - what are some ways of differentiating?

A
  • Marfans AD mostly, homocystinuria is mostly AR
  • both associated with lens dislocation (ectopia lentis) - in homocysteinuria it is down and out (Marfans up and in)
  • Mental retardation in homocysteinura
  • Homocysteinura are associated with arterial and venous thrombi
  • Homocysteinura also stiff joints, rather than lax joints
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26
Q

How do you treat Homocysteinuria?

A

1) Pyridoxine (works in 50%) and folate: both cofactors for cystathione B synthetase
2) Betaine: decreases homycystiene
3) Rest have horrible methionine restricted and cystiene supplemented diet

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27
Q

Options for treating cysteinuria?

A

1) Low Na diet, reduces the excretion of AA in urine
2) Low methione diet (cysteine arises from methione metabolism through homocysteine)
3) Alkalise urine

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28
Q

What are the three amino acids that accumulate in maple syrup disease?

A

leucine, isoleucine and valine

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29
Q

Cystinuria prevents reabsorption of 4 common urine metabolites (AA’s) - what is the pnemonia and what are they?

A

C.O.A.L.

cystine, ornithine, arginine, lysine

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30
Q

What is the common age and presentation of organic acidaemias?

A

Newborn in the first 1-2 weeks of life with poor feeding, lethargy, encephalopathy and increased lethargy

Can present older in a child with lethargy, vomitting, FTT -> acute decompensation -> severe metabolic acidosis

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31
Q

This acidaemia is due to a deficiency in propionyl CoA carboxylase and can be associated with pancreatitis and cardiomyopathy… what is it?

A

Propionic acidaemia

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32
Q

Methylmalonic aciduria is due to a deficiency in which enzyme

A

Due to a deficiency in methylmalonyl CoA mutase -> leads to accumulation of methylmalonyl

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33
Q

How does methylmalonic aciduria typically present?

A

Presents with acute encephalopathy in the neonatal period: lethargy, poor feeding, hypotonia, vomitting, apnea, seizure, metabolic acidosis and hypoglycaemia

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34
Q

How do you treat methylmalonic acidaemia?

A

High doses of B12 - it is a cofactor for methylmalonyl

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35
Q

With B12 deficiency you can get elevation of which two biochemicals?

A

1) Homocysteine - non-specific

2) Methylmalonic acid (more specific)

36
Q

In GSD 1 - Von Gierke’s - you are unable to produce glucose from _________ and _________ due to a deficiency in _________

A
  • Unable to produce glucose from glycogeneogenesis or gluconeogenesis

Due to G6P deficiency

37
Q

Which metabolic disorder?

Present at 3-4 mo of age with hepatomegaly, hypoglycemic seizures.

Affected children often have a doll-like face with fat cheeks, relatively thin extremities, short stature, and a protuberant abdomen that is a consequence of massive hepatomegaly. The kidneys are also enlarged, whereas the spleen and heart are not involved.

hepatosplenomegaly (Secondary fatty acid accumulation and increased FAs from pyruvate) and ketosis with lactic acidosis and sometimes encephalopathy

A

GSD 1 - Von Geirkes disease

hepatosplenomegaly (Secondary fatty acid accumulation and increased FAs from pyruvate) and ketosis with lactic acidosis and sometimes encephalopathy

38
Q

GSD 2 - Pompe’s disease is due a deficiency in ______

A

Acid maltase

Responsible for degradation of glycogen in lysosomes

39
Q

Which syndrome?

  • Clinical: infantile form -> death from cardiomyopathy and muscle weakness pre age 2 years
  • Present in first few months of life with hypotonia and generalised muscle weakness aka “floppy infants”
  • Cardiac weakness -> short PR and high voltage QRS

Also: big tongue, hepatomegaly

A

Pompe’s disease (GSD 2)

40
Q

GSD 5 is due to _________ enzyme deficiency

A

Glycogen phosphorylase deficiency which is needed for breakdown of glycogen to glucose

41
Q

What are the four major biochemical anomalies in GSD 1?

A

hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia

Very significant triglyceride levels - can look milky

42
Q

This metabolic disorder can present at any age with typical features:

  • Muscle cramping and pain with exercise
    Rhabdomyolysis and myoglobinuria with exercise
A

GSD V - McArdle disease

43
Q

Common/weird lab anomaly seen with fructose intolerance is ?

A

Hypophosphateaemia

Other lab findings:
lactic acidosis, hyperuricemia, and hypermagnesemia

44
Q

Fructose intolerance is seen due to a deficiency in which enzyme?

A

fructose-1,6-bisphosphate aldolase (aldolase-B)

45
Q

Fructose intolerance is more commonly seen in which autoimmune condition?

A

Coeliac disease

46
Q

_______ is due to a deficiency in enzymes fumarylacetoacetate hydrolase (FAH) and leads to elevated levels of succinylacetone

A

Tyrosinaemia

47
Q

the treatment of choice for Tyrosinaemia is_____

A

The treatment of choice is nitisinone

48
Q

Tyrosinaemia I presents with _____

A
  • Presents in the first year of life
  • An acute hepatic crisis typically heralds the onset of the disease and is usually precipitated by an intercurrent illness that produces a catabolic state
  • Fanconi syndrome
  • Peripheral neuropathy
  • HOCM and hyperinsulinism can also be seen
49
Q

_________ is a rare autosomal recessive disorder caused by deficiency of cytosolic tyrosine aminotransferase and results in palmar and plantar hyperkeratosis, herpetiform corneal ulcers, and intellectual disability

A

Tyrosinemia type II

50
Q

Transient tyrosinemia is thought to result from delayed maturation of _________

A

4-HPPD

51
Q

What’s the most common enzyme deficiency that leads to Galactosemia?

A

Galactose 1 phosphate uridyl transferase deficiency (Needed to convert galactose-1-Po4 into glucose-1-PO4)

52
Q

_____ sepsis is seen commonly in Galactossemia

A

E. Coli

53
Q

A Metabolic disorder

Eyes: cataracts
Genital: female gonadal failure
Renal: fanconis, aminoaciduria
sepsis: 25-50% risk E coli sepsis

In particular, this enzyme deficiency can present with cataracts

A

Galactossemia

Galactose Kinase deficiency can present with cataracts

54
Q

How do you diagnose Galactossemia?

A
  • urinary reducing substances to screen

- detect levels of galactose-1-phosphate uridyl transferase in erythrocytes

55
Q

Oxidation of fatty acids occurs in the ______

A

Mitochondria

56
Q

Increased acetylcarnitis and acetylglycines in urine are seen with _____

A

Medium chain AcetylCoa deficiency

57
Q

Carnitine is normally required for…..

A

Transporting long chain fatty acids into the mitochondria for beta oxidation

58
Q

It is theorised that carnitine deficiency is a major cause of _____ (AED) hepatotoxicity

A

Valproate

59
Q

Which group of metabolic disorders is not screened on newborn screening tests?

A

Lysosomal storage disorders

60
Q

Which metabolic disorder:

  • Coarse features, prominent forehead, depressed nasal bridge and macroglossia + Cherry red spot + clear cornea =
A

GM1 Gangliosidoses

B-galactosidase deficiency

61
Q

Gangliosides are lipids, part of neuronal and synaptic membranes. Thus GM1 gangliosidoses can present with…

A

Hepatosplenomeglay, kyphoscoliosis, seizures, GDD, progressive blindness, spastic quadriplegia

Often death in first 2-4 years

62
Q

GM2 Gangliosidoses is also known as ____

A

Tay Sachs disease

63
Q

GM2 Gangliosidoses or Tay Sach’s disease is caused by deficiency of which enzyme?

A

Hexosaminidase A

64
Q

Which metabolic disorder?

Initially normal development then hypotonia at 4-6 months; 1-2 years later noted macrocephaly, seizures, spasticity, blindness + CHERRY RED SPOT (100%)

A

Tay Sach’s disease

Note: Nil hepatosplenomegaly

65
Q

_________ very similar to Tay Sachs but have doll like facies and hepatosplenomegaly

A

Sandhoff disease v

66
Q

Name the metabolic disorder:

A rare AR neurodegenerative disease characterised by severe myelin loss, and presence of globoid bodies in white matter.

Due to a deficiency in lysosomal enzyme galactocerebrosidase

A

Krabbe disease (Globoid cll leukodystrophy)

Note: This is a disorder of myelin destruction, NOT abnormal myelin formation.

Galactocerebrosidase cannot be metabolised during normal myelin turnover and so it stimulates formation of globoid cells -> these reflect destruction of oligodendroglial cells

67
Q

Name the syndrome:

  • Excessive irritability and crying, unexplained hyperpyrexia, feeding problems
  • Generalised seizures apear early
  • Opisthotonus and visual inattentiveness (due to optic atrophy)

CT: Symmetric increased densities in caudate nuclei and thalami

A

KRABBE DISEASE

Globoid Cell Leukodystrophy

68
Q

Name the syndrome:

  • Initially gait abnormalities at 1-2 years
  • Over a few months the child can no longer stand, deterioration in intellectual function, deterioration in speech and vision with optic atrophy
  • Within one year of onset the child is unable to sit unsupported and develops decorticate postures
  • Pseudobulbar palsies -> impaired feeding and swallowing -> NGT and gastrostomy
  • Usually die of aspiration or bronchopneumonia by 5-6 years
A

Late infantile metachromatic leukodystrophy

69
Q

Foam cells in bone marrow =

A

Neimann-pick disease

70
Q

Which is the most common type of Neimann pick disease and how does it classically present?

A
  • Type C (more common):
  • Cholestatic jaundice in infancy which resolves is a typical feature
  • later: neurodegeneration, cerebellar ataxia, oculomotor apraxia (vertical gaze apraxia is pathognomonic)
71
Q

Name the syndrome:

Due to deficiency of glucocerebrosidase which results in accumulation of undegraded lipid substrates, (glucosylceramide), in cells of the reticuloendothelial system

Massive splenomegaly > hepatomegaly (may get hypersplenism)

A

Gaucher disease

72
Q

In Neimann-Pick disease:

Type C is the most common; but out of type A and B:

  • Which is more severe?
  • Which presents more commonly in infants
A
  • Type A: more infantile: more severe and present with hepatosplenomegaly and then regression
  • Type B: more juvenile, less common, less severe neurologically, more liver issues
73
Q

Triad of strabismus, trismus/nuchal rigidity and opisthotonus is associated with a progressive spastic and seizure disorder =

A

Type 2 Gaucher disease = infantile form/acute neuropathic form

Rapid degenerative course with death at 1-2 years

74
Q

Increased Lactate: Pyruvate ratio is seen with which type of metabolic disorder?

A

Mitochondrial disease

75
Q

Which syndrome?

  • Commonest MPS
  • Predominantly skeletal issues
  • Major feature is neurological deterioration with behavioural problems and severe ID
  • Mild somatic features
  • Heparin sulfate found in urine only
  • Death by 20 years
A

SanFilippo disease (MPS 3)

76
Q

Myoclonic epilepsy with ragged red fibres =

A

MERRF

77
Q

MUCOPOLYSACCHARIDOSES are all autosomal recessive in inheritance except ______ disease

A

Hunter disease (MPS2) = it is X-linked recessive

78
Q

Name the syndrome:

  • Often appear normal at birth, except for inguinal hernias
  • Coarse facies: large skull, large tongue, thick lips
  • dystosis multiplex/ skeletal dysplasia
  • Corneal opacity
A

Hurler disease

Often communicating hydrocephalus -> ventriculomegaly and increased ICP

Death before ten years

79
Q

Which syndrome?

Investigations
- Most important/specific finding: demonstration of abnormally high levels of VLCFA in plasma, RBCs or cultured fibroblasts (seen in all affected boys and 85% heterozygous girls)
CT/MRI: lesions involving the periventricular white matter in posterior parietal and occipital lobes

A

X-Linked leukodsytrophy

80
Q

Which syndrome?

  • Commonest MPS
  • Predominantly skeletal issues
  • Major feature is neurological deterioration with behavioural problems and severe ID
  • Mild somatic features
  • Heparin sulfate found in urine only
  • Death by 20 years
A

SanFilippo disease (MPS 3)

81
Q

Which syndrome?

  • Brushfield spots
  • Stippling of patella is characteristic
    Death at <1yr
A

Zelleweger syndrome

82
Q

Which syndrome:

Due to an enzyme block in B-oxidation of phytanic acid to pristanic acid

  • Clinical onset between 4-7 years
    o Intermittent motor and sensory neuropathy
    Ataxia, progressive neurosensory hearing loss, retinitis pigmentosa and loss of night vision, ichthyosis and liver dysfunction
A

Refsum disease

83
Q

Which syndrome?

  • Sx between 4 and 8 years
  • First symptom is usually hyperactivity
  • Auditory discrimination is impaired: may -> difficulty using the phone, or impaired performance in verbally presented intelligence tests
  • Other early Sx: disturbance of vision, ataxia, poor handwriting and strabismus
  • Seizures in nearly all pts
A

X-Linked Leukodystrophy

84
Q

Which syndrome?

Investigations
- Most important/specific finding: demonstration of abnormally high levels of VLCFA in plasma, RBCs or cultured fibroblasts (seen in all affected boys and 85% heterozygous girls)
CT/MRI: lesions involving the periventricular white matter in posterior parietal and occipital lobes

A

X-Linked leukodsytrophy

85
Q

How may you be able to differentiate Neimann-Pick disease and Tay Sachs?

A

Neimann-Pick they often have absent or reduced reflexes.

In Tay Sachs they are hyperreflexic (also have macrocephaly)

86
Q

Melanocytic naevi are also associated with .. which mucopolysaccharidoses?

A

Hurlers syndrome

Hunter’s syndrome is associated with Syndrome

87
Q

Which metabolic disorder can present in the first year of life with subdural haemorrhage and hyperammonia?

A

Glutaric aciduria

BPT exams (24 decks)

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