Advanced
Technical
IVT
MCAD deficiency
Medium-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder.
Full Definition
Medium-chain acyl-CoA dehydrogenase deficiency is the most common fatty acid oxidation disorder, affecting the body's ability to break down medium-chain fatty acids for energy. Infants with MCAD deficiency can develop life-threatening hypoglycemia and metabolic crisis during periods of fasting or illness when fatty acid oxidation is needed. The condition is detected through elevated C8 and C10 acylcarnitines on newborn screening and can be effectively managed through avoiding fasting and prompt treatment of illness.
Usage
Usage note: MCAD is always capitalized; use 'deficiency' not 'disorder' in formal contexts.
In Context
- "MCAD deficiency was confirmed by genetic testing after abnormal newborn screening results." — diagnostic workup
- "Children with MCAD deficiency should never fast for more than 8-10 hours." — management guideline
Also known as
medium-chain acyl-CoA dehydrogenase deficiency
Don't confuse with
VLCAD deficiency
SCAD deficiency