KEGG   DISEASE: Congenital systemic glutamine deficiency
Entry
H00923                      Disease                                

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.
Category
Inherited metabolic disease
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
Related
pathway
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00910  Nitrogen metabolism
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
Gene
GLUL [HSA:2752] [KO:K01915]
Other DBs
ICD-11: 5C50.Y
ICD-10: E72.8
MeSH: C536832
OMIM: 610015
Reference
  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
J Inherit Metab Dis 29:352-8 (2006)
DOI:10.1007/s10545-006-0256-5
Reference
  Authors
Rose C, Jalan R
  Title
Congenital glutamine deficiency with glutamine synthetase mutations.
  Journal
N Engl J Med 354:1093-4; author reply 1093-4 (2006)
DOI:10.1056/NEJMc053332

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