Factsheet
Condition:
Medium chain-acyl coA dehydrogenase deficiency (MCAD)
Inheritance:
Autosomal recessive
Genetic Etiology:
Mutation in gene ACADM, which encodes medium chain acyl CoA dehydrogenase, involved in beta oxidation of medium chain fatty acids. Other fatty acid oxidation defects affect metabolism of longer chain fatty acids.
Frequency:
Approximately 1/5000–1/17,000
Clinical features:
Time of presentation is usually in infancy, but can be later in life. During times of fasting or stress due to illness a crisis may occur with hypoglycemia, metabolic acidosis, elevated liver enzymes, hyperammonemia, hyperuricemia, and lack of ketones in the urine. This can lead to coma and death.
Management:
Management focused on avoidance of hypoglycemia and restriction of medium chain triglyceride intake.
Genetic counseling:
Based on autosomal recessive inheritance, with genetic testing available.