Entry |
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Name |
Congenital systemic glutamine deficiency; Glutamine synthetase deficiency |
Supergrp |
Secondary hyperammonemia [DS: H01400] |
Description |
Congenital systemic glutamine deficiency (CSGD) is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, and cerebrospinal fluid.
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Category |
Inherited metabolic disease
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Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of amino acid metabolism
H00923 Congenital systemic glutamine deficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00923 Congenital systemic glutamine deficiency
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Related pathway |
hsa00250 | Alanine, aspartate and glutamate metabolism |
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Gene |
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Other DBs |
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Reference |
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Authors |
Haberle J, Gorg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Haussinger D |
Title |
Inborn error of amino acid synthesis: human glutamine synthetase deficiency. |
Journal |
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Reference |
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Authors |
Rose C, Jalan R |
Title |
Congenital glutamine deficiency with glutamine synthetase mutations. |
Journal |
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LinkDB |
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