Glycine Encephalopathy 1 (GCE1)

Glycine Encephalopathy 1(来自ICD-11)
别称:
Non-Ketotic Hyperglycinemia
Gce
Nkh
Infantile Non-Ketotic Hyperglycinemia
Neonatal Non-Ketotic Hyperglycinemia
Infantile Glycine Encephalopathy
Neonatal Glycine Encephalopathy
Classic Glycine Encephalopathy
Hyperglycinemia, Nonketotic
Hyperglycinemia Nonketotic
Glycine Encephalopathy1
Encephalopathy, Glycine
Glycine Encephalopathy
Infantile Nkh
Neonatal Nkh
Gce1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycine Encephalopathy 1, also known as non-ketotic hyperglycinemia, is related to atypical glycine encephalopathy and glycine encephalopathy 2. An important gene associated with Glycine Encephalopathy 1 is GLDC (Glycine Decarboxylase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Glyoxylate metabolism and glycine degradation. Affiliated tissues include brain and spinal cord.
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基础信息

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参考文献
MALACARDS
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Unknown
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7
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107

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