KEGG   DISEASE: Global developmental delay, progressive ataxia, and elevated glutamine
Entry
H02846                      Disease                                
Name
Global developmental delay, progressive ataxia, and elevated glutamine
Description
Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) is an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5' untranslated region of the gene encoding glutaminase (GLS). The expansion of GLS results in reduced expression and glutaminase deficiency.
Category
Inherited metabolic disorder
Brite
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
     H02846  Global developmental delay, progressive ataxia, and elevated glutamine
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02846  Global developmental delay, progressive ataxia, and elevated glutamine
Pathway
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
hsa04082  Neuroactive ligand signaling
Network
nt06544 Neuroactive ligand signaling
Gene
GLS [HSA:2744] [KO:K01425]
Other DBs
ICD-11: 5C50.Y
OMIM: 618412
Reference
PMID:30970188
  Authors
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drogemoller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM
  Title
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
  Journal
N Engl J Med 380:1433-1441 (2019)
DOI:10.1056/NEJMoa1806627
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