Final answer:
Fatty acid oxidation disorder may present with hypoglycemia, ketosis, higher than normal levels of fatty acids in blood or urine, abnormal newborn screening results, and metabolic indicators such as increased alpha-omega dicarboxylic acids or acetyl CoA not proceeding through the citric acid cycle. Conditions like ketosis in diabetes or lipid accumulation in adrenoleukodystrophy may also suggest such an underlying disorder.
Step-by-step explanation:
Fatty acid oxidation disorders are metabolic conditions affecting the breakdown of fatty acids into energy, primarily occurring in the mitochondria. Key findings that suggest a person may have a fatty acid oxidation disorder include the presence of hypoglycemia (low blood sugar), increased levels of specific fatty acids or their metabolites in blood or urine, abnormalities on a newborn screen, among others. In certain conditions such as starvation, diabetes mellitus, or where there is inadequate carbohydrate availability, the body shifts to oxidize fatty acids to meet energy demands. This process leads to an increase in acetyl CoA which, if not utilized in the citric acid cycle, results in the production of ketone bodies - a condition known as ketosis. High levels of ketone bodies can lead to ketoacidosis, especially in diabetics, indicated by a sweet smell on the patient's breath due to expelled acetone.
Fatty acid oxidation disorders can also be suggested by specific biochemical changes. For instance, omega oxidation of fatty acids increases when cells are in high energy demand, such as during severe diabetes or starvation. Accumulation of alpha-omega dicarboxylic acids in urine may indicate a defect in this pathway. In disorders like adrenoleukodystrophy (ALD), fatty acids with very long chains accumulate within the cells due to defective metabolism, leading to progressive neurological damage.
The metabolism of odd-chain fatty acids ultimately leads to the formation of acetyl-CoA and propionyl CoA. If the conversion of propionyl-CoA to succinyl CoA is impaired, this might suggest a disorder in the beta-oxidation pathway.