SIDS and Hereditary Metabolic Disorders

Question 1

List 2 accidental causes of SUDI

Answer 1

1. Falls
2. Asphyxia (Suffocation)
3. Choking

Question 2

What pattern of inheritence may endocardial fibroelastosis arise from?

Answer 2

X-linked (EFE2) or Autosomal recessive (EFE1)

Question 3

Name one symptom of endocardial fibroelastosis

Answer 3

Cardiac hypertrophy

Question 4

What pattern of inheritence does Histiocytoid Cardiomyopathy follow?

Answer 4

Autosomal recessive

Question 5

What type of disorder is MCAD?

Answer 5

Metabolic disorder, caused by mutations in the ACADM gene

Question 6

What sort of stain is used to detect MCAD?

Answer 6

Fat stain

Question 7

What is the rate of SIDS now?

Answer 7

26 cases per year

Question 8

Name 2 risk factors for SIDS

Answer 8

Smoking environment

Sleeping environment

Question 9

What are the three risk factors in the “Triple risk” theory for SIDS?

Answer 9

1. Vulnerable infant
2. Critical time in development
3. Environmental stress

Question 10

What does subdural haematomas result from?

Answer 10

Subdural haematomas results from injury to the bridging cortical veins

Question 11

Name one condition associated with shaken baby syndrome

Answer 11

Subdural haematomas

Question 12

Name one thing to be considered when deciding whether SIDS has been caused by non-accidental injury

Answer 12

• Multiple injuries

- Nature and site of injury

Question 13

Name two diseases that may mimic non-accidental injury

Answer 13

1. Accidental injury

2. Rickets

Question 14

What are the treatments for phenylketonuria?

Answer 14

• Low protein diet
• Enzyme cofactor
• Enzyme substitution therapy

Question 15

Name 2 disorders common in the Irish Travellers Community

Answer 15

• Galactosaemia

- Mitochondrial disease

Question 16

What pattern of inheritance do metabolic disorders usually have?

Answer 16

Autosomal recessive

Question 17

Name the 3 groups of metabolic disorders/IEMs and an example from each

Answer 17

1. Intoxication, e.g. Maple syrup urine disease
2. Energy insufficiency, e.g. Fatty acid disorders
3. Complex molecules, e.g. Cholesterol synthesis defects

Question 18

Give an example of a metabolic disorder which give rise to small molecule intoxication

Answer 18

Phenylketonuria (accumulation of phenylalanine)

Question 19

Give an example of a metabolic disorder which give rise to intoxication, with an alternative pathway involved

Answer 19

Methylmalonic acidaemia

Question 20

What are the clinical signs of intoxication?

Answer 20

Acute: Vomiting
Chronic: Developmental Delay

Question 21

Give a treatment for intoxication metabolic disorders

Answer 21

Toxin removal through:

• Dietary manipulation
• Medication

Question 22

Give an example of a hereditary metabolic disorder with energy insufficiency

Answer 22

Mitochondrial disease

Question 23

How many mitochondrial genes are there?

Answer 23

37

Question 24

Give an example of a hereditary metabolic disorders resulting in complex molecule storage

Answer 24

Hurler Syndrome (Alpha-1 iduronidase deficiency)

Question 25

Give an example of a hereditary metabolic disorders resulting in complex molecule deficiencies

Answer 25

Peroxisomal disorders

Question 26

Are complex molecule disorders liable to decompensation?

Answer 26

No

Question 27

Name 2 diagnostic tests used for complex molecule disorders

Answer 27

• Enzyme Assays

- Substrate Measurement

Question 28

List 2 treatments for complex molecule disorders

Answer 28

• Enzyme replacement therapy

- Substrate reduction

Question 29

What are two indications to investigate for a hereditary metabolic disease?

Answer 29

• Children of any age with unexplained encephalopathy
• Lactic acidosis
• Progressive neurological disease

Question 30

Name two diagnostic tests for an infant suspected of IEM (Intoxication)

Answer 30

1. Urine organic acids

2. Plasma amino acids