Choline Deficiency Manifestations

Primary Clinical Manifestations

Fatty liver disease (hepatic steatosis) is the hallmark presentation, confirmed by imaging or elevated liver enzymes, as choline is essential for lipid transport from the liver via phosphatidylcholine synthesis, according to Clinical Nutrition guidelines 1
Liver dysfunction can progress to steatohepatitis in severe cases, as reported by Clinical Nutrition 1
Subclinical muscle damage reflected by increased creatine phosphokinase levels is a common manifestation of choline deficiency, as noted by Clinical Nutrition 1

In cystic fibrosis patients, choline depletion results in muscle abnormalities alongside liver and fatty acid disturbances, as reported by Clinical Nutrition 2, 1
Patients on parenteral nutrition are at particular risk for developing unexplained liver steatosis/steatohepatitis or muscle damage with elevated creatine kinase, and plasma free choline measurement should be considered in these patients, according to Clinical Nutrition guidelines 1

Disrupted one-carbon metabolism is a consequence of choline deficiency, as reported by Clinical Nutrition 1