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FRCPC > Metabolics > Flashcards

Metabolics Flashcards

1
Q

List 5 clinical features that are suspicious for IEM in a severely ill neonate

A 
Well at birth
Lethargy
Poor feeding
Seizure
Vomiting
Hypotonia
Liver dysfunction
AG-acidosis
Hypoketotic hypoglycemia
Unusual odor
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2
Q

List 4 clinical presentations of IEM in an older child

A 
Developmental regression
Seizures
Encephalopathy
Myopathy
Recurrent vomiting
Cardiomyopathy
Unusual odor (especially during illness)
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3
Q

What initial labs do you order in suspected IEM

A 
First tier:
CBC, diff
VBG
Lytes
Glucose
Ammonium
Lactate
Urine ketones
Urine reducing substances
Second tier:
Urine OA
Plasma AA
Plasma acylcarnitine
Plasma free carnitine
CSF AA, NT, lactate
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4
Q

As a rule of thumb, hyperammonemia with no acidosis is suggestive of which IEM?

A

Urea cycle defect

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5
Q

As a rule of thumb, hyperammonemia, AG acidosis, ketosis, hypoglycemia is suggestive of which IEM?

A

Organic acidemias (e.g. propionic acidemia)

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6
Q

As a rule of thumb, AG-acidosis and elevated lactate is suggestive of which IEMs?

A
  1. Disorders of glycogenolysis (e.g. GSD I)
  2. Disorders of pyruvate metabolism (e.g. pyruvate dehydrogenase deficiency)
  3. Disorders of gluconeogenesis (e.g. fructose 1, 6 bisphosphatase, pyruvate carboxlase deficiency, PEPCK)
  4. Mitochondrial disorders
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7
Q

What IEMs are associated with cytpenias?

A

GSD Type I-neutropenia
Propionic acidemia-neutropenia, thrombocytopenia
MMA

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8
Q

Describe the pathophysiology of glycogen storage diseases

A

Defects in glycogen metabolism cause:

i) Hypoglycemia
ii) Ketosis (because fat is being broken down instead of glucose)
iii) Accumulation of glycogen in tissues

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9
Q

List the most common glycogen storage diseases that primarily affect the liver

A

Type Ia/Ib (Von GIerke Dz): Glucose-6-phosphatase deficiency

Type III: Debrancher deficiency (involves liver and muscle)

Type IX: Liver phosphorylase kinase deficiency

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10
Q

List the most common glycogen storage diseases that primarily affect the muscle

A

o Type II (Pompe): Lysosomal acid α-glucosidase deficiency

Type V: Myophosphorylase deficiency (McArdle disease)

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11
Q

How do liver glycogen storage diseases typically present?

A

Fasting hypoglycemia
Ketosis
Hepatomegaly
Hypotonia

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12
Q

How do muscle glycogen storage diseases typically present?

A

Symptoms with exercise
Muscle pain, cramps
Myoglobinuria

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13
Q

How does GSD Ia/b (von Gierke) present?

A 
Early infancy
Hepatomegaly
Hypoglycemia
Lactic acidosis
Hypotonia
Mild DD
FTT
Recurrent infections (Neutropenia)
Bleeding diathesis (platelet dysfn)
Renal-large kidneys, FSGS, HTN
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14
Q

List laboratory features consistent with GSD Ia/b

A 
Hypoglycemia
Lactic acidosis
Ketoacidosis
Hyperlipidemia
Neutropenia
Hyperuricemia
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15
Q

How do you diagnose GSD Ia/b?

A

Molecular DNA testing

If negative, muscle/liver biopsy

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16
Q

Treatment of GSD Ia/b

A
  1. Keep blood glucose normal:
    - Frequent administration of uncooked cornstarch
    - Add maltodextrin to breastmilk
  2. GCSF for neutropenia
  3. Allopurinol for hyperuricemia
  4. Liver transplant
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17
Q

List 3 clinical features of Pompe disease (GSD II)

A

Cardiomyopathy
Severe hypotonia
Macroglossia
Hepatomegaly (d/t heart failure)

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18
Q

How do you diagnose Pompe disease?

A

↓ acid maltase activity in leukocytes or fibroblasts can

Muscle biopsy not required

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19
Q

What are the characteristic ECG findings in Pompe disease?

A 
Short PR
BV hypertrophy (high voltage QRS in all leads)
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20
Q

Treatment for Pompe disease

A

Enzyme replacement therapy
High protein, low carbohydrate diet
OT/PT

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21
Q

What enzyme is deficient in classic galactosemia?

A

GALT (galactose-1-phosphate uridyl transferase)

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22
Q

Describe the pathophysiology of galactosemia

A

Accumulation of galactose because of GALT deficiency
Galactose converted to galactitol=TOXIC
Injury to kidney, liver and brain

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23
Q

How and when does classic galactosemia typically present?

A

First few days of life after receiving BF/formula containing lactose

Conjugated hyperbilirubinemia
Vomiting 
Hypoglycemia
Cataracts
Hepatomegaly-->Liver failure
Mental retardation
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24
Q

What infection are neonates with galactosemia at increased risk of?

A

E. Coli sepsis

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25
Q

If patient has similar symptoms to classic galactosemia, but presents later, what diagnosis do you think of?

A

Partial transferase deficiency

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26
Q

How do you diagnose galactosemia?

A

Screen-urine reducing substances

Diagnostic test-RBC-GALT enzyme activity (false negative if pRBC in past 3 months)

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27
Q

Treatment of galactosemia

A

Elimination of lactose from diet

E.g. soy formula!

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28
Q

What complications of galactosemia are reversed with elimination diet?

A

Reversed-liver disease, renal disease, cataracts, growth failure

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29
Q

List 2 diseases that cause positive urine reducing subtances

A
  1. Galactosemia

2. Congenital fructose intolerance

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30
Q

List 2 long term complications of galactosemia in treated patients (past question)

A

Premature ovarian failure
Osteopenia
DD
LD

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31
Q

What diagnosis should you think of in a patient with seizures and regression who temporarily responds to glucose load?

A

GLUT1 transporter defect

  • GLUT1 necessary for transport of glucose into CSF
  • Low CSF glucose
  • Treat with ketogenic diet
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32
Q

What test do you use to diagnose urea cycle defects?

A

Quantitative serum amino acids

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33
Q

What is deficient in PKU and what substrate accumulates?

A

Deficiency in either:
Enzyme-Phenylalanine hydroxylase
OR
Cofactor-tetrahydrobiopterin (BH4)

Substrate-Phenylalaline

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34
Q

List clinical manifestations of PKU

A 
Profound mental retardation 
Seizures
Microcephaly
Hyperactivity
Autistic behaviours
Growth retardation
Lighter complexion
Enamel hypoplasia
Visual impairment
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35
Q

How should a positive NBS for PKU be confirmed?

A

Quantitative measurement of plasma phenylalanine

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36
Q

Treatment of PKU

A

Phenylalanine-restricted diet for life

Frequent monitoring of phenylalalnine levels

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37
Q

List 3 possible findings in a neonate born to mother with PKU NOT on phenylalanine-restricted diet

A

Mental retardation
Microcephaly
Growth retardation
Congenital heart disease

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38
Q

Which 3 amino acids accumulate in maple syrup urine disease?

A

Branched chain amino acids

  1. Leucine
  2. Isoleucine
  3. Valine
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39
Q

How does MSUD typically present?

A 
Present within 1st week of life
Vomiting
Lethargy
Hypertonicity
Opisthotonus
Seizures
Hypoglcemia
Metabolic acidosis
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40
Q

What is the most serious complication of MSUD?

A

Cerebral edema

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41
Q

How is MSUD diagnosed?

A

Quantiative serum amino acids (elevated levels of leucine (highest), isoleucine, valine)

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42
Q

Treatment of MSUD

A

Acute:

  • Hydration (not usually sufficient)
  • Dialysis

Long-term:

  • Lifelong diet low in branched-chain amino acids
  • Liver transplant
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43
Q

What are the clinical features of homocystinuria?

A

Same as Marfans with 3 differences:

  1. Progressive developmental delay
  2. Prothrombotic
  3. Lens is typically dislocated downward rather than upward
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44
Q

How do you diagnose homocystinuria?

A

Urinary cyanide nitroprusside

Quantiative serum amino acids (high homocystine, methionine, low cystine)

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45
Q

How do you treat homocystinuria?

A

High dose vitamin B6 +/- folate

46
Q

What is cystinosis?

A

Systemic disease caused by a defect in the metabolism of cystine

Results in accumulation of cystine crystals in most of the major organs of the body

47
Q

What are renal manifestations of cystinosis?

A
  • Most common complication
  • Fanconi syndrome (proximal RTA)
  • Tubulointerstitial fibrosis
  • Progression to ESRD
48
Q

What are the extrarenal manifestations of cystinosis?

A

1) Liver
- Hepatomegaly
- Portal HTN

2) Eye
- Cystine deposits in the cornea and the conjunctiva
- Retinopathy

3) Brain
- Mild cognitive impariment
- Progressive CNS involvement after age 20

4) Growth retardation

5) Endocrine
- Hypothyroidism
- Hypogonadism

49
Q

List 2 long term complications in cystinosis

A

CNS abnormalities
Muscle weakness
Swallowing dysfunction
Pancreatic insufficiency

50
Q

What are the 3 main organ systems affected in tyrosinemia?

A

1) Liver
- Acutely hepatitis+hepatomegaly
- Eventually develop cirrhosis
2) Nerves
- Episodes of acute peripheral neuropathy triggered by infection
- Can be painful
3) Renal
- Fanconi like syndrome

51
Q

How do you diagnose tyrosinemia?

A

Serum AA, urine OA

Elevated levels of succinylacetone in serum and urine

52
Q

How do you treat tyrosinemia?

A

Nitisinone (NTBC) → inhibits tyrosine degradation at 4-HPPD

Liver transplant

53
Q

What organic acidemia should be considered in the differential for vitamin B12 deficiency?

A

Methylmalonic aciduria

Vitamin B12 is a cofactor for the enzyme that metabolizes MMA (adenosylcobalamin-dependent enzyme methylmalonyl-CoA mutase)

54
Q

Management priorities in patient with organic acidemia and metabolic crisis

A
  1. 1.5 x fluids with D10W
  2. NPO
  3. IV lipids
  4. Treat hyperammonemia, acidosis, electrolyte abnormalities
  5. L-carnitine
55
Q

Laboratory abnormalities common to most organic acidopathies during metabolic crisis

A
  • AG acidosis
  • Ketosis
  • Hyperammonemia
  • Hypoglycemia
  • Cytopenias (in PA and MMA)
56
Q

Which organic acidemia can cause subdural hematomas and be confused with non-accidental injury?

A

Glutaric Acidemia Type 1

57
Q

List 3 things that are unique about glutaric acidemia, compared to other organic acidurias

A
  1. Rarely presents in newborn period
  2. Can develop irreversible dystonic movement disorder
  3. Subdural hemorrhages
58
Q

What is the most common IEM?

A

Fatty acid oxidation defects

59
Q

Describe the pathophysiology of fatty acid oxidation disorders

A

Problem=Free fatty acids cannot undergo beta oxidation, and thus ketones are not produced

This results in 2 problems:

1) Hypoglycemia
- During prolonged fasting when switch from carbohydrate metabolism to fat metabolism

2) Toxic effects of fatty acid metabolites on liver, muscle, and heart
- Liver failure
- Cardiomyopathy
- Myopathy, rhabdomyolysis

60
Q

How does MCAD typically present?

A 
Hypoglycemia with prolonged fasting (12-16 hours) or illness
Hepatomegaly
Reyes-like syndrome
Coma
SIDS
61
Q

What tests do you order to diagnose fatty acid oxidation defect?

A

Plasma acylcarnitine

Urine OA-low in ketones, high in dicarboxylic acids

Total and free carnitine (often get secondary carnitine deficiency)

62
Q

Treatment of MCAD

A

Acute: D10WNS to prevent hypoglycemia, suppress lipolysis

Long-term: Avoid fasting > 10-12 hours

63
Q

What is the presentation of VLCAD?

A
  • More severe than MCAD
  • Presents in infancy
  • Chronic problems with muscle weakness, myalgia, rhabdo
  • Hypertrophic or dilated CM during acute attack
64
Q

What are the two types of osteopetrosis?

A

1) Severe autosomal recessive

2) Mild autosomal dominant

65
Q

Clinical features of osteopetrosis

A 
Macrocephaly
Hepatosplenomegaly
Deafness
Blineness
Severe anemia
Psychomotor delay
Pathologic fractures
66
Q

What is the xray finding in osteopetrosis?

A

Diffuse bone sclerosis

Bone within bone appearance

67
Q

Treatment of osteopetrosis

A

Gamma interferon
Vitamin D
Restrict Ca intake
EPO for anemia

68
Q

Defects in the following enzymes result in what type of IEM: carbamyl phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase, argininosuccinate lyase, arginase
?

A

Urea cycle defects!

69
Q

List 3 IEMs that cause hyperammonemia

A
  1. Urea cycle defects
    - e.g. OTC deficiency
  2. Organic Acidemias
    - e.g. Propionic academia, MCAD
  3. Lysinuric protein intolerance
  4. Hyperammonemia-hyperornithinemia-homocitrullinemia syndrome
  5. Transient hyperammonemia of the newborn
  6. Congenital hyperinsulinism with hyperammonemia
70
Q

List clinical signs of hyperammonemia in a neonate

A 
Lethargy
Seizures
Coma
Tachypnea (resp alkalosis)
Bulging fontanelle (raised ICP)
71
Q

List 3 management steps for hyperammonemia in UCDs

A
  1. IV fluids D10W/NS at 1.5 x maintenance
  2. IV Lipids
  3. Stop all protein feeds
  4. Treat hyperammonemia (sodium benzoate, sodium phenylacetate, arginine)
  5. Dialysis if above treatment fails to lower plasma ammonia
72
Q

How is OTC deficiency inherited?

A

X-linked partially dominant

73
Q

What is transient hyperammonemia of the newborn?

A

Transiently elevated NH3 seen in neonates with no signficant neurologic sequale

Normal NH3 levels:
Healthy full-term infants <100 μmol/L

Prems <150 μmol/L

74
Q

Describe the pathophysiology of lysosomal storage disorders

A

Due to deficiency of lysosomal enzyme
Leads to accumulation of substrate in lysosomes

Accumulation in CNS leads to neurodegeneration, and in organs can lead to organomegaly, skeletal abnormalities, pulmonary infiltration

75
Q

What kind of IEM is Tay Sachs

A

Lysosomal storage disorder

GM2 Gangliosidoses

76
Q

Clinical features of Tay Sachs

A

GM2Gangliosidoses

  • Usually develop normally until 4-5 months, then regress
  • Decreased eye contact
  • Increased startle reaction
  • Loss of motor skills
  • Macular pallor and retinal cherry red spots ***
  • Macrocephaly
  • At 2 y.o. →seizures which may be refractory to AEDs
  • Death occurring by age 4-5
77
Q

What is Sandoff disease?

A

Similar to Tay Sachs , but also cardiac involvement, HSM, and bony abnormalities

78
Q

How do you diagnose Tay Sachs and Sandoff disease?

A

Measuring β-hexosaminidase A and B activities in peripheral leukocytes

79
Q

What is the most common lysosomal storage disease?

A

Gaucher disease

80
Q

What lysosomal storage disorder should be suspected in patients with unexplained organomegaly, easy bruising, and bone pain?

A

Gaucher disease

81
Q

List the clinical features of Gaucher (type I, adult form)

A
  • Can present at various ages, with most presenting by adolescence
  • Bruising from thrombocytopenia
  • Chronic fatigue secondary to anemia
  • Hepatomegaly +/- elevated LFTs
  • Splenomegaly
  • Bone symptoms → pain, pseudo-osteomyelitis pattern, pathologic fractures, lytic lesions, osteosclerosis, bone crises with swelling,erlenmeyer flask deformity of the distal femur
  • Pulmonary involvement
  • Development and intelligence are normal
82
Q

How do you treat Gaucher disease?

A

Enzyme replacement with recombinant beta-glucosidase

Consider BMT

83
Q

What is the pathophysiology of Niemann Pick A/B?

A

Types A and B are due to deficient activity of acid sphingomyelinase→ leads to accumulation of sphingomyelin in the monocyte-macrophage system and CNS

84
Q

What is the pathophysiology of Niemann Pick C?

A

Due to defective cholesterol transport

85
Q

How does Niemann Pick A present?

A

Fatal disorder of infancy characterized by FTT, HSM, and rapidly progressive neurodegenerative course that leads to death by 2-3 y.o.

86
Q

How does Niemann Pick B present?

A 
Hepatosplenomegaly
Pancytopenia (from splenic sequestration)
Pulmonulary nodules
Liver cirrhosis, portal HTN, ascites
Normal IQ
87
Q

How does Niemann Pick C present?

A

Prolonged neonatal jaundice

Progressive neurodegenerative course after 1-2 years

88
Q

What is the enzyme deficient in Fabry disease?

A

α-galactosidase A

89
Q

List 3 clinical features of Fabry disease

A
  • Fabry crises***: severe neuropathic or limb pain, which may be precipitated by stress, extremes of heat or cold, and physical exertion
  • Telangiectasias and angiokeratomas
  • Renal: proteinuria, renal insufficiency
  • Hypohydrosis
  • In older patients, cardiac involvement and strokes
90
Q

Describe the pathophysiology of mucopolysaccharidoses

A

Mutations in lysosomal enzymes needed to degrade glycosaminoglycans →leads to intralysosomal accumulation of GAG fragments

91
Q

List clinical features of MPS I (Hurler disease)

A

-Infants appear normal at birth, but inguinal hernias are often present

  • Diagnose between 6 and 24 months of age
  • HSM
  • Coarse facial features
  • Corneal clouding
  • Large tongue
  • Prominent forehead
  • Joint stiffness
  • Short stature
  • Skeletal dysplasia
  • Progressive ventriculomegaly
  • Valvular heart disease
92
Q

What is the characteristic X-ray finding in MPS I and II

A

Xrays show a characteristic skeletal dysplasia known as dysostosis multiplex

93
Q

What are the clinical features of MPS II?

A

Similar to Hurler disease except:

  • Lack of corneal clouding
  • Slower progression

Other features:

  • Coarse facial features
  • Short stature
  • Dysostosis multiplex
  • Joint stiffness
  • Mental retardation manifest between 2-4 y.o.
94
Q

How do you diagnose MPS?

A

Xrays-are useful to detect early signs of dysostosis

Screen=Semiquantitative spot tests for increased urinary GAG excretion

Definitive test=Enzyme assay

95
Q

Treatment of MPS

A
  1. Early BMT (improvement of somatic symptoms and halts neurcognitive degeneration)
  2. Enzyme replacement therapy
96
Q

In general, how do mitochondrial disorders classically present?

A

Affects tissues with most mitochondria-brain, muscle, heart

  1. Progressive CNS dysfunction
  2. Myopathy, movement disorders
  3. Cardiomyopathy
  4. Lactic acidosis
  5. Multifocal, relapsing/remitting course (often associated with intercurrent illness)
97
Q

What are the general principles behind treatment of mitochondrial disorders?

A 
1. Medications to support mitochondrial function:
Coenzyme Q10
Riboflavin
Thiamine
Creatine
Levocarnitine
  1. Avoid medications that inhibit respiratory chain
    - e.g. phenobarbitol, valproic acid
98
Q

List the clinical features of MELAS

A
  • Motor, cognitive regression
  • Recurrent stroke like episodes
  • Lactic acidosis
  • Generalized seizures
  • Recurrent HA/migraine, vomiting
  • Myopathy
  • Ophthalmoplegia
  • Pigmentary retinopathy
  • Exercise intolerance
  • Cardiomyopathy
  • Cardiac conduction defects
  • Deafness
  • Diabetes
  • Proximal renal tubular dysfunction.
99
Q

What is the characteristic finding on muscle biopsy in MELAS?

A

Ragged red fibres

100
Q

How do you diagnose MELAS?

A

MRI/MRS-lactate peak
Muscle biopsy
Molecular testing for MELAS mutations

101
Q

What is the pathophysiology of Leighs disease?

A

Mitochondrial disorder

Deficiency in enzymes involved in electron transport chain

102
Q

What symptom is characteristic of Leighs disease?

A

Intermittent respirations with associated sighing or sobbing-suggests brainstem dysfunction

Other symptoms:

  • Seizures
  • Weakness
  • Hypotonia
  • Ataxia
  • Nystagmus
  • Opthalmoplegia
  • HOCM
  • Renal tubular dysfunction
103
Q

List 3 characteristic features of peroxisomal disorders

A

Multisystem disease!

  1. Defect in neuronal migration
  2. Micronodular cirrhosis of the liver
  3. Renal cysts
  4. Eye problems (corneal clouding, cataracts)
  5. CHD
  6. Dysmorphic features
104
Q

What laboratory test is suggestive of peroxisomal disorders?

A

Elevated VLCFA

105
Q

How can you distinguish X-linked adrenoleukodsytrophy from ADHD?

A

X-ALD can mimic ADHD

  • Hyperactivity
  • Poor school performances

But few differences:

  • Visual impairment
  • Impaired auditory discrimination
  • Ataxia
  • Poor handwriting
  • Seizures
  • Progressive spasticity
  • Hearing loss
  • Adrenal insufficiency
106
Q

How do you diagnose X-ALD?

A

High VLCFA
ACTH stimulation
Molecular testing
MRI has characteristic patter-periventricular white matter lesions in posterior parietal and occipital lobes

107
Q

Child with respiratory alkalosis, encephalopathic, showing subtle signs of increased ICP, what is the most likely IEM?

A

UCD

-Hyperammonemia leads to encephalopathy, respiratory alkalosis and raised ICP

108
Q

List the clinical features of abetalipoproteinemia

A

Inability to absorb fat soluble vitamins
Clinically indistinguishable from vitamin E deficiency

Progressive ataxia
Retinitis pigmentosa (vit A)
Acanthocytosis (spiculated RBCs on smear)

109
Q

List 3 IEMs NOT inherited in autosomal recessive manner (previous MCQ)

A 
Fabry disease (X-linked)
Hunter disease (X-linked)
OTC deficiency (X-linked)
X-linked adrenoleukodystrophy
110
Q

What is the inheritance pattern of MELAS and recurrence risk?

A

Maternally inherited (mitochondrial DNA)

Difficult to predict recurrence risk because of heteroplasmy (all kids will get mom’s mitochondrial DNA but varying proportions of mutated DNA)

111
Q

List 3 metabolic disorders that can present with acute encephalopathy (past MCQ)

A 
Organic acidemia
UCD
GSD
MSUD
Fatty acid oxidation disorders
112
Q

What is the presentation of GM1 gangliosidosis?

A 
Presents early infancy
Dysmorphism (Low-set ears, frontal bossing, depressed nasal bridge, long philtrum)
Progresive developmental delay
Progressive psychomotor retardation
GTC seizures
HSM
Skeletal abnormalities
Macular cherry red spot (50%)

FRCPC (27 decks)

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