N/A
20 Years
20 Years
Not Enrolling
Female
Methionine Adenosyltransferase Deficiency, Metabolism, Inborn Errors

Thank you

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

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