MCAD screening Flashcards
1
Q
What are the three methods that maintain glucose homeostasis?
A
- Gluconeogenesis
- Glycogenolysis
- Fat oxidation
2
Q
What is MCAD deficiency?
A
- Medium chain acyl-coA dehydrogenase deficiency
- disorder of fatty acid oxidation that impairs body’s ability to break down medium chain fatty acids into acetyl-coA
3
Q
What are the clinical symptoms associated with MCAD deficiency?
A
- Hypoglycaemia
- Hypoketosis
- Lethargy, coma, death
4
Q
How does MCAD deficiency manifest?
A
- secondary accumulation of key metabolites
- dicarboxylic aciduria and octanoyl carnitine
- increased FFA:3-OHB ratio (3-hydroxybutyrate)
5
Q
What is the typical age of onset for MCAD deficiency?
A
- 1 yr of age
- often following a mild intercurrent infection or viral illness
6
Q
What was the previous lab method for detection of MCAD deficiency?
A
Urinary organic acid analysis
7
Q
What is the screening protocol for MCAD?
A
- Screen at day 5 (as for PKU)
- measure underived MRM C8
- if less than 0.5 = normal
- if greater than 0.5 then have a full scan Eluate
- if still greater than presume positive for MCADD
8
Q
What is the future method proposed for detection of MCADD?
A
MS/MS: widely adapted to detect internal errors of metabolism
