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Wednesday, November 27, 2013

New research paper on Isolated Persistent Hypermethioninemia

Paper title :  Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

by : Nagao M, Tanaka T, Furujo M. Source Department of Pediatrics and Clinical research, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan

pubmed link to abstract :  isolated persistent hypermethioninemia research paper

It has been noted in the blog before that  isolated persistent hypermethioninemia (IPH) is another known cause of 'metabolic malodor'. There is not much interest in this as it is generally regarded as being 'benign' (i.e. symptomless) apart from a malodour (probably in a transient form).

Only the abstract is free to read, but from the abstract it seems this is a similar paper that geneticists tend to do about metabolic disorders, i.e. checking out a small group of 'sufferers' to check the gene at fault for the sufferers' variants/mutants etc. They estimate that in Japan the 'disorder' may affect about 10 in a million, but 'facts' of these disorders tends to start on the conservative side and tend to focus on 'severe' genetic types. So it is presumably unknown how many may have this disorder in a more 'genetically milder' 'transient' form.

They also claim in this paper that it may not be a 'benign' metabolic disorder (i.e. malodor is not important) as some in their group had  "brain demyelination or neurological complications"


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