MCKAT
Also written as: MCKAT — Medium-chain ketoacyl-CoA thiolase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency, a rare fatty acid oxidation disorder detected through acylcarnitine analysis.
Full Definition
Medium-chain ketoacyl-CoA thiolase deficiency is an extremely rare disorder of mitochondrial fatty acid beta-oxidation. It can cause episodic hypoglycemia, metabolic acidosis, and hepatomegaly during periods of fasting or illness. The condition is identified through elevated C6 and C8 acylcarnitines on newborn screening, though differential diagnosis from MCADD requires additional testing. Management involves avoiding prolonged fasting and providing adequate glucose during illness.
Usage
Usage note: Rare disorder; ensure differential from MCADD is clearly documented in screening reports.
In Context
- "The acylcarnitine pattern suggested MCKAT rather than the more common MCADD." — diagnostic report
- "MCKAT is extremely rare compared to other medium-chain defects." — medical literature