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Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency



Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

For Condition: Methionine Adenosyltransferase Deficiency,Metabolism, Inborn Errors
Status: Completed
Sponsor(s): National Center for Research Resources (NCRR) , UNC Lineberger Comprehensive Cancer Center
Synopsis: OBJECTIVES: I. Determine whether plasma choline and breast milk choline levels are low at fasting in a patient with methionine adenosyltransferase deficiency, and if the choline levels are low, determine whether choline levels respond to dietary supplementation with phosphatidylcholine. II. Determine whether this patient has a fatty liver by magnetic resonance spectroscopy.
Details: PROTOCOL OUTLINE: Blood is drawn for liver function tests and measurement of plasma choline levels and breast milk samples are taken for measurement of breast milk choline levels at fasting and at 1 hour after breakfast on day 1. The patient then undergoes magnetic resonance spectroscopy of the liver to assess liver density and choline compound mass. The patient then receives oral phosphatidylcholine supplement, and plasma and breast milk samples are taken at 3 and 6 hours after the dose. Oral phosphatidylcholine supplements continue for 30 days. The above studies are repeated on day 31.
Eligibility:
Study Type:
  Interventional, Treatment
Minimum Age/Maximum Age: 20 Years/20 Years
Genders: Female
Protocol Entry Criteria: - Patient with methionine adenosyltransferase deficiency who is nursing
Total Enrollment: 1

Location and Contact Information:

Overall Study Official:
StevenZeisel,  Study Chair,  UNC Lineberger Comprehensive Cancer Center


Additional Information:
Study ID Numbers:
  199/15077;  UNCCH-GCRC-1405
Study Start Date: January 2000
Record last reviewed: July 2000
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00006061

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