Hypermethioninemia

Common Name(s)

Hypermethioninemia

Hypermethioninemia (MET) is a condition that occurs when there is a high amount of methionine in the body. This is a rare condition, and the number of people with it worldwide is currently unknown. Many people with MET do not show signs of the condition. However, if MET is untreated, it may cause learning delays, muscle weakness, and other health problems in some affected individuals. If an individual does show symptoms, they will appear within the first few weeks of life and may include developmental delays, muscle weakness, sleeping longer than usual, and a "cabbage-like" smell. Babies who receive treatment, which includes a special diet, typically have no health complications and may grow and develop normally. Babies who show signs of MET and do not receive treatment are at risk for intellectual disabilities. Many babies are screened to see if they may be affected by MET at birth, but the conditions included in newborn screening vary by state by state. For more information, visit Baby's First Test.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypermethioninemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypermethioninemia" returned 8 free, full-text research articles on human participants. First 3 results:

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
 

Author(s): Magnus K Bjursell, Henk J Blom, Jordi Asin Cayuela, Martin L Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard Struys, Ulrika von Döbeln, Claes M Gustafsson, Joakim Lundeberg, Anna Wedell

Journal: Am. J. Hum. Genet.. 2011 Oct;89(4):507-15.

 

Four inborn errors of metabolism (IEMs) are known to cause hypermethioninemia by directly interfering with the methionine cycle. Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particularly if liver disease is involved. ...

Last Updated: 31 Dec 1969

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[Hypermethioninemia in the preterm newborn. Predisposing factors].
 

Author(s): O López-Suárez, M L Couce Pico, A Pérez-Muñuzuri, D E Castiñeiras Ramos, J R Fernández-Lorenzo

Journal: An Pediatr (Barc). 2010 Mar;72(3):179-84.

 

Excess methionine can cause central nervous system disorders such as diffuse cerebral edema and disorders of myelin.

Last Updated: 31 Dec 1969

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Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity.
 

Author(s): I Pérez Mato, M M Sanchez del Pino, M E Chamberlin, S H Mudd, J M Mato, F J Corrales

Journal: J. Biol. Chem.. 2001 Apr;276(17):13803-9.

 

Methionine adenosyltransferase (MAT) catalyzes the synthesis of S-adenosylmethionine (AdoMet), the main alkylating agent in living cells. Additionally, in the liver, MAT is also responsible for up to 50% of methionine catabolism. Humans with mutations in the gene MAT1A, the gene that ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Hypermethioninemia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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