aminomethyltransferase and Apnea

aminomethyltransferase has been researched along with Apnea* in 1 studies

Other Studies

1 other study(ies) available for aminomethyltransferase and Apnea

Article	Year
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. Epileptic disorders : international epilepsy journal with videotape, 2009, Volume: 11, Issue:1 We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. The patient presented with myoclonic jerks, apnea and encephalopathy three months after birth without satisfactory therapeutic response. During the first days of clinical symptoms the patient presented a paroxystic burst-attenuation EEG pattern which progressively evolved into an established typical burst-suppression pattern within a few days. West syndrome occurred four weeks later and the patient died at seven months of extra-uterine life due to a serious respiratory infection with cardio-respiratory arrest. Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system. Topics: Aminomethyltransferase; Apnea; Brain; Brain Diseases, Metabolic; Electroencephalography; Fatal Outcome; Female; Glycine; Humans; Infant; Infant, Extremely Low Birth Weight; Infant, Newborn; Infant, Premature; Mutation; Myoclonus; Spasms, Infantile	2009

Article

Year

Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.

Epileptic disorders : international epilepsy journal with videotape, 2009, Volume: 11, Issue:1

We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. The patient presented with myoclonic jerks, apnea and encephalopathy three months after birth without satisfactory therapeutic response. During the first days of clinical symptoms the patient presented a paroxystic burst-attenuation EEG pattern which progressively evolved into an established typical burst-suppression pattern within a few days. West syndrome occurred four weeks later and the patient died at seven months of extra-uterine life due to a serious respiratory infection with cardio-respiratory arrest. Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system.

Topics: Aminomethyltransferase; Apnea; Brain; Brain Diseases, Metabolic; Electroencephalography; Fatal Outcome; Female; Glycine; Humans; Infant; Infant, Extremely Low Birth Weight; Infant, Newborn; Infant, Premature; Mutation; Myoclonus; Spasms, Infantile

2009