← Back to guidelines
Nuclear Medicine5 papers

Familial methionine malabsorption

Last edited:

Clinical Presentation

No adverse effects were noted in the mother despite moderately severe deficiency of methionine adenosyltransferase I/III activity [PMID:14518826].

Diagnosis

Plasma methionine concentrations remained consistently elevated at 300-350 micromol/L throughout the pregnancies in a woman with MAT I/III deficiency [PMID:14518826].

Management

It was suggested that the patient ingest two eggs daily from gestation week 17, which tended to raise plasma choline and phosphatidylcholine levels [PMID:14518826].

References

1 Mudd SH, Tangerman A, Stabler SP, Allen RH, Wagner C, Zeisel SH et al.. Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies. Journal of inherited metabolic disease 2003. link

1 papers cited of 5 indexed.

Original source

  1. [1]
    Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies.Mudd SH, Tangerman A, Stabler SP, Allen RH, Wagner C, Zeisel SH et al. Journal of inherited metabolic disease (2003)

HemoChat

by SPINAI

Evidence-based clinical decision support powered by SNOMED-CT, Neo4j GraphRAG, and NASS/AO/NICE guidelines.

⚕ For clinical reference only. Not a substitute for professional judgment.

© 2026 HemoChat. All rights reserved.
Research·Pricing·Privacy & Terms·Refund·SNOMED-CT · NASS · AO Spine · NICE · GraphRAG