Fat oxidation defect presenting with overwhelming ketonuria. Issue 5 (1st November 2002)

• Record Type: Journal Article
• Authors: Wraige, E; Champion, M P; Turner, C; Dalton, R N
• Is Part Of: Archives of disease in childhood. Volume 87:Issue 5(2002)
• Page Start: 428
• Page End: 429
• Publication Date: 2002-11-01
• Subjects: fat oxidation defect -- hypoglycaemia -- acylcarnitine -- VLCAD; MCADD, medium chain acyl CoA dehydrogenase deficiency -- VLCADD, very long chain acyl CoA dehydrogenase deficiency; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.87.5.428
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Ketonuria accompanying hypoglycaemia is conventionally thought to exclude fat oxidation defects. We describe a 2 year old girl with hypoglycaemic encephalopathy in whom a diagnosis of very long chain acyl CoA dehydrogenase deficiency was suggested on the basis of acylcarnitine analysis despite massive ketonuria.