C123435Level 6
Methionine Adenosyltransferase Deficiency
**Semantic type:** Disease or Syndrome
**Definition:** A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.
**Synonyms:** - Hypermethioninemia, Isolated Persistent - Isolated Persistent Hypermethioninemia - MAT Deficiency - MAT I/III Deficiency
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