Böhm Marlies, Henderson Howard, Van der Zwan Henriette, Basson Sandra
King Edward Veterinary Referral Hospital.
J S Afr Vet Assoc. 2014 May 13;85(1):1042. doi: 10.4102/jsava.v85i1.1042.
L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia. Some affected dogs show only subtle behavioural changes. Amongst canines, the condition has been best described in Staffordshire Bull Terriers. Although this is the first reported case in South Africa, at least three other affected dogs have been indentified by polmerase chain reaction (PCR) in this country. Affected dogs have normal haematology, serum biochemistry and routine urine analysis. This report discusses the advantages and limitations of the three main diagnostic modalities, namely: magnetic resonance imaging, urine gas chromatography-mass spectrometry and genetic testing. The aim of this report is to increase awareness of the condition, assist diagnosis in encephalopathic dogs and improve detection of carriers amongst breeding stock.
L-2-羟基戊二酸尿症是一种常染色体隐性代谢紊乱疾病，表现为脑病。最常见的症状是癫痫发作、震颤、共济失调和/或痴呆。一些患病犬只仅表现出细微的行为变化。在犬类中，斯塔福郡斗牛梗受该病影响的情况描述最为详尽。尽管这是南非首例报告病例，但该国至少还有另外三只患病犬通过聚合酶链反应（PCR）被确诊。患病犬的血液学、血清生化指标及常规尿液分析均正常。本报告讨论了三种主要诊断方法的优缺点，即：磁共振成像、尿液气相色谱-质谱联用和基因检测。本报告旨在提高对该病的认识，辅助诊断患脑病的犬只，并改进种犬中携带者的检测。
