Linked Life Data

21308989

Source:http://linkedlifedata.com/resource/pubmed/id/21308989

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-2-21
pubmed:abstractText
This review covers briefly the major conditions, genetic and non-genetic, sometimes leading to abnormally elevated methionine, with emphasis on recent developments. A major aim is to assist in the differential diagnosis of hypermethioninemia. The genetic conditions are: (1) Homocystinuria due to cystathionine ?-synthase (CBS) deficiency. At least 150 different mutations in the CBS gene have been identified since this deficiency was established in 1964. Hypermethioninemia is due chiefly to remethylation of the accumulated homocysteine. (2) Deficient activity of methionine adenosyltransferases I and III (MAT I/III), the isoenzymes the catalytic subunit of which are encoded by MAT1A. Methionine accumulates because its conversion to S-adenosylmethionine (AdoMet) is impaired. (3) Glycine N-methyltrasferase (GNMT) deficiency. Disruption of a quantitatively major pathway for AdoMet disposal leads to AdoMet accumulation with secondary down-regulation of methionine flux into AdoMet. (4) S-adenosylhomocysteine (AdoHcy) hydrolase (AHCY) deficiency. Not being catabolized normally, AdoHcy accumulates and inhibits many AdoMet-dependent methyltransferases, producing accumulation of AdoMet and, thereby, hypermethioninemia. (5) Citrin deficiency, found chiefly in Asian countries. Lack of this mitochondrial aspartate-glutamate transporter may produce (usually transient) hypermethioninemia, the immediate cause of which remains uncertain. (6) Fumarylacetoacetate hydrolase (FAH) deficiency (tyrosinemia type I) may lead to hypermethioninemia secondary either to liver damage and/or to accumulation of fumarylacetoacetate, an inhibitor of the high K(m) MAT. Additional possible genetic causes of hypermethioninemia accompanied by elevations of plasma AdoMet include mitochondrial disorders (the specificity and frequency of which remain to be elucidated). Non-genetic conditions include: (a) Liver disease, which may cause hypermethioninemia, mild, or severe. (b) Low-birth-weight and/or prematurity which may cause transient hypermethioninemia. (c) Ingestion of relatively large amounts of methionine which, even in full-term, normal-birth-weight babies may cause hypermethioninemia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1552-4876
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
157
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3-32
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:21308989-Adenosylhomocysteinase, pubmed-meshheading:21308989-Amino Acid Metabolism, Inborn Errors, pubmed-meshheading:21308989-Calcium-Binding Proteins, pubmed-meshheading:21308989-Cystathionine beta-Synthase, pubmed-meshheading:21308989-Diagnosis, Differential, pubmed-meshheading:21308989-Female, pubmed-meshheading:21308989-Glycine N-Methyltransferase, pubmed-meshheading:21308989-Humans, pubmed-meshheading:21308989-Infant, Newborn, pubmed-meshheading:21308989-Liver Diseases, pubmed-meshheading:21308989-Methionine, pubmed-meshheading:21308989-Methionine Adenosyltransferase, pubmed-meshheading:21308989-Mitochondrial Diseases, pubmed-meshheading:21308989-Neonatal Screening, pubmed-meshheading:21308989-Organic Anion Transporters, pubmed-meshheading:21308989-Tyrosinemias, pubmed-meshheading:21308989-cis-trans-Isomerases
pubmed:year
2011
pubmed:articleTitle
Hypermethioninemias of genetic and non-genetic origin: A review.
pubmed:affiliation
Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, MD, USA. muddh@mail.nih.gov
pubmed:publicationType
Journal Article, Review