TY  - CHAP
M1  - Book, Section
TI  - Ornithine Delta-Aminotransferase Deficiency
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
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.  The  areas  of  atrophy  enlarge  during  the  second  and  third  decades.  Posterior  subcapsular  cataracts  have  been  associated  by  the  end  of  the  second  decade.  Computed  tomography  and  magnetic  resonance  imaging  (MRI)  studies  demonstrated  the  presence  of  type  II  muscle  fiber  changes  in  large  muscle  groups  because  of  hyperornithinemia-induced  deficiency  of  high-energy  creatine  phosphate.  Brain  MRI  revealed  degenerative  lesions  in  the  white  matter  in  50%  of  the  gyrate  atrophy  patients,  and  70%  present  premature  atrophic  changes.  Early  degenerative,  atrophic  brain  changes  and  abnormal  EEG  are  features  of  gyrate  atrophy,  in  addition  to  the  well-characterized  eye  and  muscle  manifestations.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58082184
ER  -