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Summary
EPILEPSY, BENIGN NEONATAL
CONVULSIONS, BENIGN FAMILIAL NEONATAL
121200
OMIM = Online Medalian Inheritance of Men
1949
20q13.33
  • phenobarbital
rare
autosomal dominant
high penetrance, variable expression
symptoms
apnea
onset, newborn
seizures
laboratory finding
no specific laboratory findings
Literature
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Gravel RAClarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki KThe GM2 gangliosidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2922839-28791995
Kranz Cet al.A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)J Clin Invest108111613-16192001
Guffon Net al.Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid testJ Pediatr1472260-2622005
Caldovic Let al.Biochemical properties of recombinant human and mouse N-acetylglutamate synthaseMol Genet Metab873226-2322006
Gibson KMNyhan WL, Jaeken JInborn errors of GABA metabolismBioassays40241986
Lunardi Get al.The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compoundsNeuroscience1424991-9972006
Heckmann Met al.Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysisActa Paediatr941121-1242005
Jaeken Jet al.Gamma-aminopbutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolismNeuropediatrics150165-1691984
Scriver CRGibson KMDisorders of beta and gamma-amino acids in free and peptide-linked formsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101349-13681995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994