RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164080704
T1 Ornithine Delta-Aminotransferase Deficiency
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164080704
RD 2024/04/19
AB Rare  genetic  disorder  affecting  mitochondrial  metabolism  of  ornithine.  It  is  characterized  by  the  presence  of  gyrate  atrophy  of  the  retina  leading  to  night  blindness  that  begins  in  late  childhood,  accompanied  by  sharply  demarcated  circular  areas  of  chorioretinal  atrophy.  Early  degenerative,  atrophic  brain  changes  and  abnormal  EEG  are  features  of  gyrate  atrophy,  in  addition  to  the  well-characterized  eye  and  muscle  manifestations.