20 Years
20 Years
Female
Methionine Adenosyltransferase Deficiency, Metabolism, Inborn Errors
Trial Information
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.
Inclusion Criteria
- Patient with methionine adenosyltransferase deficiency who is nursing
Type of Study:
Interventional
Study Design:
Primary Purpose: Treatment
Principal Investigator
Steven H. Zeisel
Investigator Role:
Study Chair
Investigator Affiliation:
UNC Lineberger Comprehensive Cancer Center
Authority:
United States: Federal Government
Study ID:
199/15077
NCT ID:
NCT00006061
Start Date:
January 2000
Completion Date:
January 2000
Related Keywords:
- Methionine Adenosyltransferase Deficiency
- Metabolism, Inborn Errors
- genetic diseases and dysmorphic syndromes
- inborn errors of metabolism
- methionine adenosyltransferase deficiency
- rare disease
- Metabolism, Inborn Errors
Name | Location |
|---|
