Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

2014-08-27 03:57:30 | BioPortfolio


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.



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.

Study Design

Primary Purpose: Treatment


Methionine Adenosyltransferase Deficiency






Office of Rare Diseases (ORD)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:57:30-0400

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Medical and Biotech [MESH] Definitions

An enzyme that catalyzes the synthesis of S-adenosylmethionine from methionine and ATP. EC

A preparation of METHIONINE that includes a mixture of D-methionine and L-methionine isomers.

A stable synthetic analog of methionine enkephalin (ENKEPHALIN, METHIONINE). Actions are similar to those of methionine enkephalin. Its effects can be reversed by narcotic antagonists such as naloxone.

Reductases that catalyze the reaction of peptide-L-methionine -S-oxide + thioredoxin to produce peptide-L-methionine + thioredoxin disulfide + H(2)O.

An enzyme that activates methionine with its specific transfer RNA. EC

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