Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.

doi:10.1016/j.ymgme.2011.11.006

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Article

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.

Molecular genetics and metabolism - 1 Feb 2012

Mudd S Harvey, Wagner Conrad, Luka Zigmund, Stabler Sally P, Allen Robert H, Schroer Richard, Wood Timothy, Wang Jing, Wong Lee-Jun

Abstract excerpt

This paper reports studies of two patients proven by a variety of studies to have mitochondrial depletion syndromes due to mutations in either their MPV17 or DGUOK genes. Each was initially investigated metabolically because of plasma methionine concentrations as high as 15-21-fold above the upper limit of the reference range, then found also to have plasma levels of S-adenosylmethionine (AdoMet) 4.4-8.6-fold...

Topics

Adolescent
Base Sequence
DNA, Mitochondrial
Exons
Female
Glycine N-Methyltransferase
Humans
Infant
Liver
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methionine

Mitochondrial Diseases

Mitochondrial Proteins

Molecular Sequence Data

Mutation

S-Adenosylmethionine

Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 22137549
DOI: 10.1016/j.ymgme.2011.11.006
PMCID: PMC3264801

Genes

DGUOK
MPV17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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