Medium chain acyl CoA dehydrogenase (MCAD Deficiency)

DNA ANALYSIS

Indications for Molecular Testing

• Cardiac or skeletal myopathy
• Fasting hypoglycemia (hypoketotic)
• Reye-Like syndrome
• Family history of sudden, unexplained infant death

Direct Mutation Testing for MCAD Deficiency

Screening utilizes polymerase chain reaction (PCR) and RFLP for detection of a point mutation (A985G) in exon 11 of the medium chain acyl-CoA dehydrogenase (MCAD) gene. The base pair change creates a new recognition site for the restriction enzyme Nco I.

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