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Neonatal epileptic encephalopathy due to glutaminase deficiency

MedGen UID:
962986
•Concept ID:
CN279952
•
Disease or Syndrome
Orphanet: ORPHA557064

Definition

A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal epileptic encephalopathy due to glutaminase deficiency

Recent clinical studies

Diagnosis

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R
JAMA Neurol 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941. PMID: 30575854Free PMC Article

Clinical prediction guides

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R
JAMA Neurol 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941. PMID: 30575854Free PMC Article

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