L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier.
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.
King Edward Veterinary Referral Hospital. marlies@wol.co.za.
Marlies
M
Böhm
Howard
H
Henderson
Henriette
H
Van der Zwan
Sandra
S
Basson
D000818:Animals; D000927:Anticonvulsants / Q000627:therapeutic use; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000188:drug therapy / Q000662:veterinary*; D004283:Dog Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000652:urine; D004285:Dogs; D005260:Female; D010634:Phenobarbital / Q000627:therapeutic use; D012256:Riboflavin / Q000627:therapeutic use; D013019:South Africa; D014803:Vitamin B Complex / Q000627:therapeutic use
D000927:Anticonvulsants; D014803:Vitamin B Complex; D012256:Riboflavin; D010634:Phenobarbital