[Glycine encephalopathy: a non-ketotic disorder of glycine catabolism].
We report on a newborn with peracute glycine encephalopathy. The child exhibited poor feeding, incipient respiratory failure and increasing muscular hypotonia from the first few days of life onwards and was admitted to hospital at six weeks due to regression of the symptoms. Following respiratory arrest the child had to be placed on controlled ventilation and died at the age of four months in spite of therapeutic measures. Previous papers on this rare disease have described elevated CSF glycine levels, EEG patterns, CT scan and acoustic and visual evoked potentials. We have supplemented these for the first time by somatosensory evoked potentials. The following is an account of the clinical course and the therapy given.
D001921:Brain / Q000000981:diagnostic imaging; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D004569:Electroencephalography; D005073:Evoked Potentials, Somatosensory; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism* / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D014057:Tomography, X-Ray Computed
D005998:Glycine
Glyzinenzephalopathie: eine nicht-ketotische Glyzinabbaustörung.