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Trial record 1 of 1 for:    "Methionine adenosyltransferase deficiency"
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Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

This study has been completed.
UNC Lineberger Comprehensive Cancer Center
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: July 5, 2000
Last updated: June 23, 2005
Last verified: July 2000

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.

Condition Intervention
Methionine Adenosyltransferase Deficiency Metabolism, Inborn Errors Drug: phosphatidylcholine

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 1
Study Start Date: January 2000
Estimated Study Completion Date: January 2000
Detailed Description:


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.


Ages Eligible for Study:   20 Years to 20 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
  • Patient with methionine adenosyltransferase deficiency who is nursing
  Contacts and Locations
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Please refer to this study by its identifier: NCT00006061

Sponsors and Collaborators
National Center for Research Resources (NCRR)
UNC Lineberger Comprehensive Cancer Center
Study Chair: Steven H. Zeisel UNC Lineberger Comprehensive Cancer Center
  More Information Identifier: NCT00006061     History of Changes
Other Study ID Numbers: 199/15077
Study First Received: July 5, 2000
Last Updated: June 23, 2005

Keywords provided by Office of Rare Diseases (ORD):
genetic diseases and dysmorphic syndromes
inborn errors of metabolism
methionine adenosyltransferase deficiency
rare disease

Additional relevant MeSH terms:
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases processed this record on September 25, 2017