Chemical Pathology: Metabolic disorders Flashcards by Krishan Goyal

Q

Metabolic Disorders:

Which diseases are screened in the “Guthrie” blood spot test?

A

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Q

Metabolic Disorders:

What is the outcome and screening test for Phenylketonuria?

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Q

Metabolic Disorders:

What is the outcome and screening test for Congenital Hypothyroidism?

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Q

Metabolic Disorders:

What is the outcome and screening test for Cystic Fibrosis?

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Q

Metabolic Disorders:

What is the outcome and screening test for Medium Chain Acyl CoA dehydrogenase Deficiency?

A

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Q

Metabolic Disorders:

What does the newborn screening promgramme measure?

A

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Q

Metabolic Disorders:

What do specificity and sensitivity refer to?

What do Positive and Negative predictive values refer to?

A

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Q

Metabolic Disorders:

Using this example table, how is the sensitivity calculated?

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Q

Metabolic Disorders:

Using this example table, how is the specificity calculated?

A

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Q

Metabolic Disorders:

Using this example table, how is the Positive Predictive Value (PPV) calculated?

A

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Q

Metabolic Disorders:

Using this example table, how is the Negative Predictive Value (NPV) calculated?

A

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Q

Metabolic Disorders:

What is the classification of Inherited Metabolic Disorders?

A

Group 1: Accumulation of toxins
- Organic acidemias
  - includes propionic acidaemia
- Urea cycle disorders
  - includes ornithine transcarbamylase deficiency
- Aminoacidopathies
  - includes PKU and maple syrup urine disease
Group 2: Reduced energy stores
- Glycogen storage disorders
  - Includes Von Gierke’s
- Galactosaemia
- Fatty acid oxidation
  - Includes MCADD
Group 3: Large molecule synthesis
- Peroxisomal disorders
- Glycosylation disorders
Group 4: Defects in large molecule metabolism
- Lysosomal disorders
Group 5: Mitochondrial
- Various

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Q

Metabolic Disorders:

What are the key features of Organic acidemias?

A

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Q

Metabolic Disorders:

What are the key features of Urea cycle disorders?

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Q

Metabolic Disorders:

What are the key features of Aminoacidopathies?

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Q

Metabolic Disorders:

What are the key features of Glycogen storage disorders?

A

Q

Metabolic Disorders:

What are the key features of Galactosaemia?

A

Q

Metabolic Disorders:

What are the key features of Fatty acid oxidation disorders?

A

Q

Metabolic Disorders:

What are the key features of Peroxisomal disorders?

A

Q

Metabolic Disorders:

What are the key features of Peroxisomal disorders?

A

Q

Metabolic Disorders:

What are the key features of Group 4, Defects in Large Molecule metabolism?

A

Q

Metabolic Disorders:

What are the key features of Group 5, mitochondrial disorders?

A