Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency

Intensive Care Medicine

Volumn 34, Issue 10, 2008, Pages 1922-1924

  Panlaqui, Ogee Mer ^a   Tran, Khoa ^a   Johns, Amanda ^b   McGill, Jim ^c   White, Hayden ^a  

^a Logan Hospital   (Australia)

^b PRINCESS ALEXANDRA HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Hemodiafiltration; Hyperammonemic encephalopathy; Ornithine transcarbamylase deficiency

Indexed keywords

ALANINE AMINOTRANSFERASE; AMINO ACID; AMMONIA; ARGININE; BENZOIC ACID; CITRULLINE; GLUCOSE POLYMER; GLUTAMINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; UREA;

ACUTE HYPERAMMONEMIC ENCEPHALOPATHY; ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; AMMONIA BLOOD LEVEL; ARTICLE; ARTIFICIAL VENTILATION; BLOOD CHEMISTRY; BODY BUILDING; BRAIN DISEASE; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA DETERMINATION; EMERGENCY WARD; ENTERIC FEEDING; FLAPPING TREMOR; FLU LIKE SYNDROME; HEMODIAFILTRATION; HUMAN; LABORATORY TEST; LUMBAR PUNCTURE; MALE; MUTATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PROTEIN RESTRICTION; THORAX RADIOGRAPHY; UREA CYCLE;

BRAIN DISEASES, METABOLIC; HEMODIAFILTRATION; HUMANS; HYPERAMMONEMIA; MALE; MIDDLE AGED; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE;

EID: 52949099497     PISSN: 03424642     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00134-008-1217-2     Document Type: Article

References (10)

1. S Kleppe A Mian B Lee 2003 Urea cycle disorders Curr Treat Opt Neurol 5 309 319
2. MY Chang JT Fang YC Chen CC Huang 1999 Continuous venovenous haemofiltration in hyperammonemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency Nephrol Dial Transplant 14 1282 1284
3. LS King RH Singh WJ Rhead W Smith B Lee ML Summar 2005 Genetic counselling issues in urea cycle disorders Crit Care Clin 21 S37 S44
4. M Tuchman RJ Plante MT McCann AA Qureshi 1994 Seven new mutations in the human ornithine transcarbamylase gene Hum Mutat 4 57 60
5. ML Summar F Barr S Dawling W Smith B Lee RH Singh WJ Rhead LS King BW Christman 2005 Unmasked adult-onset urea cycle disorders in the critical care setting Crit Care Clin 21 S1 S8
6. DJ Costello T Rohininath E Treacy T Lynch 2004 Late presentation of ornithine transcarbamylase deficiency in a sixty year old male Neurology 62 S5
7. REH Schultz MK Salo 2000 Under recognition of late onset ornithine transcarbamylase deficiency Arch Dis Child 82 390 391
8. SA Clay BE Hainline 2007 Hyperammonemia in the ICU Chest 132 1368 1378
9. RH Singh WJ Rhead W Smith B Lee LS King ML Summar 2005 Nutrition management of urea cycle disorders Crit Care Clin 21 S27 S35
10. S Rimbaux C Hommet D Perrier JP Cottier A Legras F Labarthe L Lemarcis A Autret F Maillot 2004 Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders J Neurol Neurosurg Psychiatry 75 1073 1075 10:1136/jnnp.2003.026542