Researchers studied a rare genetic condition called homocystinuria that causes dangerous levels of a substance called homocysteine in the blood. Fifteen patients with this condition took a supplement called choline for 8 weeks. The results were impressive: choline levels in their blood doubled, homocysteine levels dropped by about half, and three out of four patients who had fatty liver disease saw it improve. This suggests that choline supplementation could be an important additional treatment for people whose current medications aren’t fully controlling their condition.

The Quick Take

  • What they studied: Whether taking a choline supplement could help people with a rare genetic disorder (homocystinuria) who still have high levels of a harmful substance in their blood even with standard treatment
  • Who participated: 15 patients with classic homocystinuria (a rare genetic condition affecting how the body processes certain amino acids) and 20 healthy people without the condition for comparison
  • Key finding: Patients who took 1000 mg of choline daily for 8 weeks had their dangerous blood levels cut roughly in half (from 123 to 61), and three out of four patients with fatty liver disease saw improvement
  • What it means for you: If you or a loved one has homocystinuria and standard treatments aren’t working well enough, choline supplementation may be worth discussing with your doctor. However, this is a small study, so more research is needed before making it standard treatment

The Research Details

This was a controlled study where researchers compared two groups: 15 patients with homocystinuria who received choline supplements and 20 healthy people who didn’t receive any supplements. The patients with homocystinuria took 1000 mg of choline bitartrate (a form of choline) every day for 8 weeks. Researchers measured their blood levels of choline and homocysteine at the start and end of the study. They also used special MRI imaging to look at the patients’ livers to see if fatty deposits changed. Everyone kept food diaries so researchers could track their natural choline intake from food.

This research approach is important because it shows cause-and-effect: when patients took choline, their numbers improved. The comparison group helps prove the supplement itself made the difference, not just the passage of time or other factors. Using MRI imaging to look at the liver provides concrete visual evidence of improvement, not just blood test numbers.

This study has some strengths: it measured multiple important markers (blood choline, homocysteine, and liver fat), used advanced imaging technology, and showed consistent improvements. However, it’s relatively small (only 15 patients), lasted only 8 weeks, and didn’t have a control group that received a placebo. Larger, longer studies would provide stronger evidence

What the Results Show

The main finding was dramatic: patients’ plasma homocysteine levels dropped by about 50%, falling from an average of 123 to 61 micromoles per liter. This is important because high homocysteine damages blood vessels and increases disease risk. The supplement also successfully increased choline levels in the blood, which had been low in all study participants. Interestingly, all 15 patients and all 20 healthy controls were eating too little choline in their regular diet, suggesting this is a common problem. The improvements happened within just 8 weeks, showing relatively quick results.

A striking secondary finding involved liver health. Three out of four patients who had fatty liver disease (hepatic steatosis) at the start of the study showed improvement or reversal of this condition after taking choline. This is particularly important because people with homocystinuria are at risk for liver problems, and having a simple supplement that might help is valuable. The supplement was well-tolerated with no reported serious side effects during the study period.

This research builds on earlier findings that choline plays an important role in managing homocysteine levels. Previous studies suggested choline deficiency might make homocystinuria harder to control, and this study confirms that theory. The finding that choline supplementation helps people whose standard medications aren’t fully working is new and potentially significant. However, this is one of the first studies specifically testing choline supplements in this patient population, so it’s early evidence rather than established practice.

The study is small with only 15 patients, making it harder to be certain the results apply to everyone with this condition. It only lasted 8 weeks, so we don’t know if benefits continue long-term or if patients need to keep taking it forever. There was no placebo group (fake pill), so we can’t completely rule out placebo effect, though the blood test improvements make this unlikely. The study didn’t track whether patients had any side effects beyond the 8-week period. More research with larger groups and longer follow-up is needed

The Bottom Line

For people with homocystinuria whose homocysteine levels remain high despite standard treatment: choline supplementation (1000 mg daily) appears worth discussing with your doctor. The evidence is moderate-quality right now—promising but not yet definitive. For people whose current treatment is working well: there’s no clear reason to add choline unless your doctor recommends it. For the general population: this doesn’t apply, as this is a treatment for a specific rare genetic condition

This research is most relevant to: (1) People with diagnosed classic homocystinuria, especially those not reaching target homocysteine levels with current treatment, (2) Their doctors and genetic specialists, (3) Families with a history of homocystinuria. This does NOT apply to people without homocystinuria or those with other types of high homocysteine

Based on this study, improvements in blood homocysteine levels appeared within 8 weeks. Liver improvements also showed within this timeframe. However, longer-term benefits beyond 8 weeks are unknown. If someone started this supplement, they should expect to wait at least 6-8 weeks before checking whether it’s helping, and would need regular blood tests to monitor progress

Want to Apply This Research?

  • For users with homocystinuria: track daily choline supplement intake (yes/no), weekly homocysteine blood test results when available, and monthly notes on energy levels and any symptoms. Create a simple checklist for taking the 1000 mg daily dose
  • Set a daily reminder to take the choline supplement at the same time each day (such as with breakfast). Log the dose in the app immediately after taking it. Schedule quarterly reminders to get blood work done to monitor homocysteine levels and confirm the supplement is working
  • Create a dashboard showing: (1) Supplement adherence percentage over time, (2) Trend line of homocysteine levels from blood tests, (3) Dates of medical appointments and lab work, (4) Notes from doctor visits about whether the supplement is helping. Share this data with your healthcare provider at each visit

This research describes a treatment for classic homocystinuria, a rare genetic condition. If you or someone in your family has been diagnosed with homocystinuria, do not start choline supplementation without consulting your doctor or genetic specialist. While this study shows promising results, it is relatively small and short-term. Your healthcare provider needs to monitor your condition with regular blood tests and can determine if choline supplementation is appropriate for your specific situation. This information is educational and not a substitute for professional medical advice, diagnosis, or treatment.