Early signs and course of disease of glutaryl‐CoA dehydrogenase deficiency

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

“…Acute encephalopathic onset during the first year of life, characteristic brain CT/MRI findings, and detection of glutaric acid in the urine all support a diagnosis of GA-I [Bergman et al, 1989;Hoffmann et al, 1995]. Although a GCDH assay contributes to confirm the diagnosis, it requires radiolabeled glutaryl-CoA [Christensen and Brandt, 1978], which is difficult to synthesize in a laboratory.…”

Subdurale Hygrome und Hämatome im Säuglingsalter als Initialmanifestation der Glutarazidurie Typ I

“…Die Glutarazidurie Typ I ist ein inzwischen biochemisch und klinisch gut charakterisiertes Krankheitsbild [1,2,9]. Mehr als die Makrozephalie sollte ein Kreuzen der Perzentilen der Kopfwachstumskurve in der Sä uglingsperiode als Alarmsymptom gedeutet werden [9].…”

Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)

“…If not diagnosed early and treated, disease onset starts ଝ This paper was presented at the 33rd Meeting of the Japanese Society for from infancy with extrapyramidal symptoms or neuronal regression, such as myotony and dystonia [6][7][8]. In patients with GA1, a characteristic appearance of the brain can be seen [9]; namely, marked enlargement of the sylvian fissure, atrophy of the brain cortex, and enlargement of the cerebral ventricle.…”