Two female Yorkshire terrier puppies were presented with generalized tonic-clonic seizures and ataxia. MRI revealed bilaterally symmetrical, diffuse regions of gray matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery sequences. Urinary organic acids were quantified by gas chromatography-mass spectroscopy and were consistent with a diagnosis of L-2-hydroxyglutaric aciduria (L2HGA). The L2HGDH gene encodes for the enzyme L-2-hydroxyglutarate dehydrogenase, which helps break down L-2-hydroxyglutaric acid. In both puppies described in this report, a homozygous mutation at the translation initiation codon of the homolog canine L2HGDH gene was detected (c.1A>G; p.Met1?), confirming the diagnosis of L2HGA at the DNA level. Canine L2HGA is caused by more than one mutation of L2HGDH, as reported in humans.
Skip Nav Destination
Article navigation
September/October 2012
Case Reports|
September 01 2012
L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers
Daniel F. Sanchez-Masian, DVM, MRCVS;
Daniel F. Sanchez-Masian, DVM, MRCVS
*
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Correspondence: [email protected] (D.S-M.)
Search for other works by this author on:
Rafael Artuch, MD, PhD;
Rafael Artuch, MD, PhD
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Joan Mascort, DVM, DECVN;
Joan Mascort, DVM, DECVN
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Corlenis Jakobs, PhD;
Corlenis Jakobs, PhD
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Gajja Salomons, PhD;
Gajja Salomons, PhD
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Angeles Zamora, MD;
Angeles Zamora, MD
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Mercedes Casado, BS;
Mercedes Casado, BS
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Matilde Fernandez, BS;
Matilde Fernandez, BS
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Alfredo Recio, DVM;
Alfredo Recio, DVM
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
Alejandro Lujan, DVM, MRCVS, DECVN
Alejandro Lujan, DVM, MRCVS, DECVN
Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain (D.S-M., J.M., A.L.); Clinical Biochemistry Department, Hospital Sant Joan de deu, CIBERER-ISCIII, Barcelona, Spain (R.A., M.C.); Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands (C.J., G.S., M.F.); Radiology Department, Centre de la Imàtge Veterinaria, Sant Joan D´ espi, Barcelona, Spain (A.Z.); and Clinica Veterinaria Levante, San Javier, Murcia, Spain (A.R.).
Search for other works by this author on:
J Am Anim Hosp Assoc (2012) 48 (5): 366–371.
Citation
Daniel F. Sanchez-Masian, Rafael Artuch, Joan Mascort, Corlenis Jakobs, Gajja Salomons, Angeles Zamora, Mercedes Casado, Matilde Fernandez, Alfredo Recio, Alejandro Lujan; L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers. J Am Anim Hosp Assoc 1 September 2012; 48 (5): 366–371. doi: https://doi.org/10.5326/JAAHA-MS-5967
Download citation file:
Sign in
Don't already have an account? Register
Client Account
You could not be signed in. Please check your email address / username and password and try again.
Could not validate captcha. Please try again.
Sign in via your Institution
Sign in via your InstitutionCiting articles via
Long-Term Survival of Primary Intracranial Histiocytic Sarcoma Through Surgical Resection and Low-Dose CCNU
Kyosuke Hidari, DVM, Yuya Nakamoto, DVM, PhD, James K. Chambers, DVM, PhD, Kazuyuki Uchida, DVM, PhD, Isao Mori, DVM, Miwa Nakamoto, DVM
Microfilaria in the Urine of a Dog with Concurrent Urinary Bladder Sarcoma
Nicole Schlette, DVM, Erin Burton, DVM, MS, DACVP, Amber Harris, DVM, DACVIM (Internal Medicine), Kendall Langsten, DVM, DACVP, Erik Olson, DVM, PhD, DACVP, Daniel Heinrich, DVM, DACVP
Chronic Myelomonocytic Leukemia with Central Nervous System Involvement in a Dog
Ilaria Tartari, DVM, Fabio Tocco, DVM, Giorgio Cancedda, DVM, Veronica Angioni, DVM, Marco Podda, DVM, Antonella Gallucci, DVM, PhD, DECVN, EBVS
Treatment Outcomes of Canine Orbital Meningiomas in Seven Cases
Akihiro Uno, DVM, Ryota Iwasaki, DVM, PhD, Takashi Mori, DVM, PhD
Transient Hypoadrenocorticism in a 7-Week-Old Kitten
Alba Planas Vintro, BVM, Linda G. Martin, DVM, MS, DACVECC, Cassidy L. Cordon, DVM, Sabrina N. Hoehne, Dr. med. vet., DACVECC, DECVECC, Elizabeth B. Davidow, DVM, DACVECC