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.

Source: Advocacy organizations associated with the condition.

 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 10 free, full-text research articles on human participants. First 3 results:

[Gene mutations in a newborn infant with hypermethioninemia].
 

Author(s): Yu-Qi Yang, Huai-Yan Wang, Li-Hua Jiang, Yu-Ping Zhang, Bing Yu, Wei Zhu, Zhi-Qiang Qin

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):1020-1021.

 

Last Updated: 31 Dec 1969

Go To URL
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

Go To URL
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
 

Author(s): Joaquín Fernández-Irigoyen, Enrique Santamaría, Yin-Hsiu Chien, Wuh-Liang Hwu, Stanley H Korman, Hanna Faghfoury, Andreas Schulze, George E Hoganson, Sally P Stabler, Robert H Allen, Conrad Wagner, S Harvey Mudd, Fernando J Corrales

Journal: Mol. Genet. Metab.. ;101(2-3):172-7.

 

Methionine adenosyltransferases (MAT's) are central enzymes in living organisms that have been conserved with a high degree of homology among species. In the liver, MAT I and III, tetrameric and dimeric isoforms of the same catalytic subunit encoded by the gene MAT1A, account for ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypermethioninemia" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.