Glycine N-Methyltransferase Deficiency (GNMT DEFICIENCY)

Glycine N-Methyltransferase Deficiency(来自ICD-11)
别称:
Gnmt Deficiency
Hypermethioninemia Due to Glycine N-Methyltransferase Deficiency
Hypermethioninemia Due to Gnmt Deficiency
Hypermethioninemia
Hepatic Methionine Adenosyltransferase Deficiency
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Glycine N-Methyltransferase Deficiency, also known as gnmt deficiency, is related to hypermethioninemia and methionine adenosyltransferase i/iii deficiency. An important gene associated with Glycine N-Methyltransferase Deficiency is GNMT (Glycine N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver and brain, and related phenotypes are hepatomegaly and elevated hepatic transaminase
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MALACARDS
AR
Unknown
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16
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4

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