MCADD
Pronunciation: EM-cad
Also written as: MCADD — medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder causing episodic metabolic crises.
Full Definition
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder, affecting the body's ability to break down medium-chain fatty acids for energy. Infants with MCADD can develop severe hypoglycemia, vomiting, and lethargy during periods of fasting or illness, potentially leading to coma or death. Early identification through newborn screening allows families to prevent metabolic crises through frequent feeding and avoidance of fasting.
Usage
Usage note: Distinguish from other acyl-CoA dehydrogenase deficiencies in reports.
In Context
- "MCADD screening showed elevated C8 acylcarnitine requiring genetic confirmation." — Follow-up protocol
- "The emergency department protocol for known MCADD includes immediate glucose monitoring." — Clinical guideline