Hypermethioninemia Due to Adenosine Kinase Deficiency (HMAKD)

Alias:

Hypermethioninemia Encephalopathy Due to Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due to Adk Deficiency

Adk Hypermethioninemia

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mental Retardation, Autosomal Recessive 8

Adenosine Kinase Deficiency

Mrt8, Formerly

Hmakd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypermethioninemia Due to Adenosine Kinase Deficiency, also known as hypermethioninemia encephalopathy due to adenosine kinase deficiency, is related to hypotonia and glycine n-methyltransferase deficiency. An important gene associated with Hypermethioninemia Due to Adenosine Kinase Deficiency is ADK (Adenosine Kinase). Affiliated tissues include liver and skeletal muscle, and related phenotypes are seizure and failure to thrive

Related ID：

MALACARDS：HYP241

OMIM：614300

MESH：D000592