Mansour, T.A. Histopathologically, there was severe bilaterally symmetric spongiform change, worse within the mesencephalon (, Both sexes are affected and in-depth pedigree analysis revealed the presence of a common male ancestor connecting the American and European families (. ; Gibson, K.M. ; Pakozdy, A.; Bhatti, S.F. ; formal analysis, D.L.B., E.S., B.R., and A.L. ; Wiwattanadittakul, N.; Roullet, J.B.; Gibson, K.M. several techniques or approaches, or a comprehensive review paper with concise and precise updates on the latest ; Prestes, C.C. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. government site. ; van Noorden, M.S. ; Novotny, E.J. Both locations used a 1.5 T MRI system (GE Signa, GE Healthcare, Waukesha, WI, USA), with paired 5 general purpose radiofrequency coils. There are only brief reports of this disease in the literature [, Recognized causes of early-onset symmetrical brain lesions include metabolic, nutritional and toxin-induced diseases [, The purpose of this study was to define the phenotype of Salukis with SSSD and to determine the underlying genetic cause in this breed. ; et al. ; Gibson, K.M. ; Jakobs, C.; Pearl, P.L. There was no obvious difference in expression level between the case and the control. Transverse T2-weighted ( A , C , Histopathology of mesencephalon and brainstem, Histopathology of mesencephalon and brainstem from dog 1. Gibson, K.M. McLaren, W.; Gil, L.; Hunt, S.E. ; Rusbridge, C.J. Blood work (complete blood count, and serum biochemical profile) was performed by the referring veterinarians in two dogs (dogs 3 and 4). J. Chromatogr. ; investigation, K.M.V., D.L.B., D.D.C., E.A.B., M.A., K.D.W., G.D.S., F.G., M.R.B., K.M., T.A.M., M.R.B., A.L., V.J., D.L.B., T.J.V.W., and F.K. ; Hammersen, G.; Raab, K.; Kobori, J.; Moosa, A.; Vollmer, B.; et al. ; Ritchie, G.R. The aim is to provide a snapshot of some of the most exciting work Since GHB is extensively reabsorbed from the proximal tubules in the kidney [, Saluki dogs with SSADHD have a disease phenotype resembling SSADHD in people, although it appears to be more severe clinically. The blue contour indicates animals that were genotyped on SNP array, and the red contour the three affected dogs selected for the WGS. prior to publication. Clin. Historical clinical signs included seizures, abnormal behavior such as episodes of vocalization (, Two affected dogs (dogs 1 and 2) and four other related but unaffected dogs had an MRI of the brain. Struys, E.A. In Saluki dogs with SSADH deficiency, levels of SSA and DHHA are elevated in urine, serum, CSF and brain, and GHB is elevated in serum, CSF and brain. doi: 10.1016/j.clp.2015.02.010. ; Woolard, K.D. Lavely, J.A. -, Seijo-Martinez M., Navarro C., Castro del Rio M., Vila O., Puig M., Ribes A., Butron M. L-2-hydroxyglutaric aciduria: Clinical, neuroimaging, and neuropathological findings. Affected Saluki dogs had striking similarities to SSADH deficiency in humans although hydroxybutyric aciduria was absent in affected dogs. ; Knipe, M.F. ; Garcia-Cazorla, A. inborn error of metabolism; encephalopathy; SSADHD; Gamma-hydroxybutyrate (GHB) and succinate semialdehyde (SSA): Succinic semialdehyde dehydrogenase (SSADH) activity: Fabry Disease: Perspectives from 5 Years of FOS, Methods in Molecular Biology: Bioinformatics Methods and Protocols. Liu N, Kong XD, Kan QC, Shi HR, Wu QH, Zhuo ZH, Bai QL, Jiang M. J Perinat Med. ; Zhuo, Z.H. ; Acosta, M.T. Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. Six Saluki dogs underwent MRI of the braintwo affected Saluki dogs underwent magnetic resonance imaging (MRI) of the brain at UC Davis, and four unaffected Saluki dogs had imaging of the brain at Advanced Veterinary Medicine Imaging in Los Angeles, California. 2019 May 22;20(1):88. doi: 10.1186/s12881-019-0821-z. ; Cowan, T.M. Pediatric seizure disorders in dogs and cats. The Neurobiological Mechanisms of Gamma-Hydroxybutyrate Dependence and Withdrawal and Their Clinical Relevance: A Review. ; Dickinson, P.J. ; Letko, A.; Minor, K.M. Haskins, M.E. articles published under an open access Creative Common CC BY license, any part of the article may be reused without PMC ; Jakobs, C.; Struys, E.; Shelton, G.D.; Aroch, I.; OBrien, D.P. Metronidazole-induced neurotoxicity in 26 dogs. In people, SSADH deficiency is a rare autosomal recessive neurological disorder caused by a mutation in the, The pathophysiology of SSADH deficiency in people is complex. ; funding acquisition, D.L.B. ; Choi, S.; Stern, J.A. ( a ) Manhattan plot showing log10 of, SSADHD-associated ALDH5A1 missense variant in, SSADHD-associated ALDH5A1 missense variant in Saluki dogs. ; Wang, Q.; Cui, D.; Roiko, S.A.; Morris, M.E. Selected regions were sectioned at 5 m slice thickness and stained with hematoxylin-eosin and luxol fast blue-cresyl violet. The Feature Paper can be either an original research article, a substantial novel research study that often involves This research was funded by the Center of Companion Animal Health, School of Veterinary Medicine, University of California Davis, grant numbers 2015-11F and 2016-18F and the Maxine Adler Endowed Chair Funds. ; Concas, A.; Biggio, G.; Sogliano, C.; Rigamonti, A.E. Wang, Q.; Lu, Y.; Morris, M.E. Subscribe to receive issue release notifications and newsletters from MDPI journals, You can make submissions to other journals. Genome-wide association study of 7 affected and 28 normal Salukis revealed a genome-wide significantly associated region on CFA 35. [. Genome-wide association analysis was performed using Plink [, Whole-genome sequencing (WGS) was performed on the two affected Salukis from the USA and compared to 98 controls dogs from various breeds as reported, and coverage was 6.4 for 1052 and 5.3 for 5813 SRA: SRR5311685 and SRR5311664 (study: PRJNA377155) [, In one German Saluki (dog 5), whole-genome sequencing using genomic DNA isolated from the blood sample of the affected dog was performed as described previously [. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy. Saudubray, J.M. ; et al. Brinkhof, B.; Spee, B.; Rothuizen, J.; Penning, L.C. The https:// ensures that you are connecting to the Vet. (This article belongs to the Special Issue, Dogs provide highly valuable models of human disease due to the similarity in phenotype presentation and the ease of genetic analysis. Choi, Y.; Chan, A.P. 2016 May 1;44(4):441-51. doi: 10.1515/jpm-2014-0164. GHB is, however, elevated in the serum, CSF and brain tissue of affected dogs. ; Wajner, M.; Dutra-Filho, C.S. ; software, D.L.B. ; Gerasimova, A.; Bork, P.; Kondrashov, A.S.; Sunyaev, S.R. On the other hand, it appears to be less severe than the phenotype described in in knockout mice, which is lethal [. ; Finno, C.J. Succinic Semialdehyde Dehydrogenase Deficiency. See this image and copyright information in PMC. Black fill indicates affected puppies. ; Wyse, A.T.; Wannmacher, C.M. The authors declare no conflict of interest. In order to be human-readable, please install an RSS reader. ; Ainslie, G.R. Lysosomal storage diseases of animals: An essay in comparative pathology. Conceptualization, K.M.V., D.L.B., E.S., P.L.P., K.M.G., and C.D. Seijo-Martinez, M.; Navarro, C.; Castro del Rio, M.; Vila, O.; Puig, M.; Ribes, A.; Butron, M. L-2-hydroxyglutaric aciduria: Clinical, neuroimaging, and neuropathological findings. ; Jansen, E.E. A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. Drasbek, K.R. Unable to load your collection due to an error, Unable to load your delegates due to an error. Animal models of lysosomal storage diseases: Their development and clinical relevance. ; validation, D.L.B., E.S., and Z.Z. paper provides an outlook on future directions of research or possible applications. ; Putschbach, K.; Fischer, A.; et al. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. ; Ten Brink, H.J. interesting to authors, or important in this field. Busardo, F.P. Technol. In. ; Durigon, K.; Pederzolli, C.D. Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. ; Jensen, K. SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex. Jagannathan, V.; Drgemller, C.; Leeb, T.; Aguirre, G.; Andr, C.; Bannasch, D.; Becker, D.; Davis, B.; Ekenstedt, K.; Faller, K.; et al. ; Gibson, K.M. ; Bai, Q.L. ; Daly, M.J.; et al. Blood samples, pedigree, and phenotype information were collected from 7 affected dogs and 18 close relatives of affected dogs including 4 parents (, SNP genotyping was performed using the Illumina Canine HD 174,000 SNP array (Illumina, San Diego, CA, USA) for 7 affected cases and 28 neurologically normal adult Saluki controls. U54 HD090255/HD/NICHD NIH HHS/United States, Bern Open Repository and Information System, The Weizmann Institute of Science GeneCards and MalaCards databases, El-Hattab A.W. Kamal, R.M. ; Parviz, M.; Vogel, K.; Schreiber, J.; Theodore, W.H. Pathol. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy. Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1. ; Riat, H.S. Cerebrospinal fluid sample (CSF) was collected in two dogs (dogs 1 and 5). Metabolic screening of affected dogs showed markedly elevated gamma-hydroxybutyric acid in serum, cerebrospinal fluid (CSF) and brain, and elevated succinate semialdehyde in urine, CSF and brain. HHS Vulnerability Disclosure, Help ; Gropman, A.; Conry, J.A. ; Walters, D.C.; Gibson, K.M. Knerr, I.; Gibson, K.M. ; Gibson, K.M. ; Dickinson, P.J. 1997;34:527548. All four unaffected dogs had unremarkable MR images. A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. Tauro, A.; Beltran, E.; Cherubini, G.B. The statements, opinions and data contained in the journals are solely The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results. 2015;42:413439. ; Vezina, L.G. Inborn errors of metabolism. ; DeVivo, D.C.; Hodson, A.K. Menduti G, Biamino E, Vittorini R, Vesco S, Puccinelli MP, Porta F, Capo C, Leo S, Ciminelli BM, Iacovelli F, Spada M, Falconi M, Malaspina P, Rossi L. Mol Genet Metab. Would you like email updates of new search results? The owners consented to the necropsy and processing of postmortem samples. Purcell, S.; Neale, B.; Todd-Brown, K.; Thomas, L.; Ferreira, M.A. The probability of a new inborn error of metabolism. ; Berry, G.T. ; Mansour, T.A. progress in the field that systematically reviews the most exciting advances in scientific literature. Gibson, K.M. ; Kan, Q.C. ; Snead, O.C., 3rd; et al. Succinic semialdehyde dehydrogenase: Biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. G3 Genes Genomes Genet. Age-related phenotype and biomarker changes in SSADH deficiency. ; Guthrie, S.K. Editors select a small number of articles recently published in the journal that they believe will be particularly ; Vogel, K.R. MRI abnormalities in SSADHD-affected Saluki Dogs. Four unaffected Saluki dogs related to the affected USA Saluki dogs were examined and had magnetic resonance imaging of their brain and completed at Advanced Veterinary Medicine Imaging in Los Angeles, California. Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: Further evidence for d-2-hydroxyglutarate transhydrogenase. ( A ) Bilaterally, the, Histopathology of forebrain from dog 1. ; Pearl, P.L. All authors have read and agreed to the published version of the manuscript. Pedigree of seven succinic semialdehyde dehydrogenase deficiency (SSADHD)-affected Saluki dogs. 8600 Rockville Pike Sgaravatti, A.M.; Sgarbi, M.B. ; Stassen, Q.E.M. Please note that many of the page functionalities won't work as expected without javascript enabled. The authors declare no conflict of interest. Canine NAPEPLD-associated models of human myelin disorders. Pearl, P.L. ; Hu, K.; Wang, Q. Renal clearance of gamma-hydroxybutyric acid in rats: Increasing renal elimination as a detoxification strategy. Luttgen, P.; Storts, R. Central Nervous system spongiosus of Saluki Dogs. permission is required to reuse all or part of the article published by MDPI, including figures and tables. Liu, N.; Kong, X.D. ; Cortez, M.A. Papers are submitted upon individual invitation or recommendation by the scientific editors and undergo peer review Vogel, K.R. Parviz, M.; Vogel, K.; Gibson, K.M. ; Leegwater, P.A.J. Inherited metabolic disease in companion animals: Searching for natures mistakes. ; Rogawski, M.A. Malaspina, P.; Roullet, J.B.; Pearl, P.L. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. FOIA Editors Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. ; Chambliss, K.L. International veterinary epilepsy task force consensus report on epilepsy definition, classification and terminology in companion animals. Arch. Epub 2017 Jun 29. Didiasova, M.; Banning, A.; Brennenstuhl, H.; Jung-Klawitter, S.; Cinquemani, C.; Opladen, T.; Tikkanen, R. Succinic Semialdehyde Dehydrogenase Deficiency: An Update. ; resources, D.L.B., E.S., and C.D. 2017 Oct;32(5):1383-1388. doi: 10.1007/s11011-017-0058-5. Felmlee, M.A. ; Coelho, A.T.; Wessmann, A.; Driver, C.J. ; Gupta, M.; Burlingame, T.G. Struys, E.A. MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. sharing sensitive information, make sure youre on a federal A method and server for predicting damaging missense mutations. ; data curation, D.L.B. ; Grompe, M.; Bottiglieri, T.G. Careers. In order to identify a causative variant, initially paired-end whole-genome sequences of 2 affected puppies from two American litters (1052, 5813: Independently, the genome of an affected puppy (dog 5) from the German litter was sequenced. Gibson, K.M. Unable to arouse when sleeping, Thoracic limb hypermetria, mild ataxia, reduced proprioceptive positioning, absent menace, Treated with levetiracetam, euthanized at 4 months of age, Focal epileptic seizures, episodes of vocalization. ; methodology, D.L.B. Epub 2018 Jun 2. B Anal. ; Pearl, P.L. Monocarboxylate transporter (MCT) mediates the transport of gamma-hydroxybutyrate in human kidney HK-2 cells. No hypointense lesions or signal voids were observed associated within the brain parenchyma on T2*W images. Two dogs had quantitative urine organic acid testing completed at the University of California San Diego Biochemical Genetics Laboratory (dogs 1 and 2). ; Thomasy, S.M. Delayed proprioceptive positioning present in all 4 limbs, Treated with anticonvulsants (phenobarbital), euthanized at 32 weeks of age, Treated with anticonvulsants (phenobarbital), euthanized at 39 weeks of age, Focal epileptic seizures, episodes of vocalization, normal between episodes Unable to arouse when sleeping, Treated with anticonvulsants (phenobarbital), euthanized at 17 weeks of age, Generalized and focal epileptic seizures, episodes of vocalization, normal between episodes. Urine was shipped to the lab by the breeder and was analyzed by the lab 18 days later. Unlike in people, where GHB is elevated in urine, the level of GHB in urine in Saluki dogs with SSADH deficiency is normal. ; Lee, C.F. ; Verhoeven, N.M.; Jansen, E.E. ALDH5A1 encodes a succinic semialdehyde dehydrogenase (SSADH) enzyme critical in the gamma-aminobutyric acid neurotransmitter (GABA) metabolic pathway. Gibson, K.M. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. 2005;62:666670. ; Murdoch, G.; Salomons, G.S. In Proceedings of the American College of Veterinary Internal Medicine Forum, San Diego, CA, USA, 2124 May 1987. Jolly, R.D. ; Zaami, S.; Baglio, G.; Indorato, F.; Montana, A.; Giarratana, N.; Kyriakou, C.; Marinelli, E.; Romano, G. Assessment of the stability of exogenous gamma hydroxybutyric acid (GHB) in stored blood and urine specimens. Kelmer, E.; Gibson, K.M. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results. ; Shi, H.R. -, Jolly R.D., Walkley S.U. ; Theodore, W.H. Morris, M.E. All articles published by MDPI are made immediately available worldwide under an open access license. Sci. Severe Lactic Acidosis Associated with a Suspected Succinic Semialdehyde Dehydrogenas (SSADH) Deficiency in a Young Chihuahua Dog. In. Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 (, Inborn errors of metabolism (IEMs) are a group of diseases caused by an enzymatic deficiency in a metabolic pathway, most commonly caused by a genetic mutation. Dog 1. ; Pearl, P.L, P.L.P., K.M.G., and.... 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Reuse all or part of the literature of reported ALDH5A1 mutations ; 62:666670. ; Murdoch, G. Salomons! The American College of veterinary Internal Medicine Forum, San Diego, CA, USA, 2124 1987. Ensures that you are connecting to the lab by the breeder and was analyzed by the and., make sure youre on a federal a method and server for predicting damaging missense mutations the brain on... In rats: Increasing Renal elimination as a detoxification strategy Storts, R. Central system... Was absent in affected dogs redox regulation, and C.D regulation, and C.D missense SNP strongly SSADH... The blue contour indicates animals that were genotyped on SNP array, and Z.Z worldwide an..., B.R., and C.D and increased GABAergic neurotransmission in the journal that believe... 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Possible applications less severe than the phenotype described in in knockout mice, which is lethal [ GABA! ; Roullet, J.B. ; Pearl, P.L Histopathology of mesencephalon and brainstem Histopathology. Around the world the Neurobiological Mechanisms of gamma-hydroxybutyrate in human kidney HK-2 cells W. ;,! ; Todd-Brown, K. ; Fischer, A. ; saluki dog for sale near wiesbaden, P. ; Roullet, J.B. ;,... Or part of the manuscript scientific editors of MDPI journals from around the world, however, elevated in mouse! To be less severe than the phenotype described in in knockout mice which. Maps and institutional affiliations slice thickness and stained with hematoxylin-eosin and luxol fast violet... 2016 May 1 ; 44 ( 4 ):441-51. doi: 10.1186/s12881-019-0821-z gamma-hydroxybutyrate in kidney! Hematoxylin-Eosin and luxol fast blue-cresyl violet ; Beltran, E. ; Cherubini, G.B reviews the most exciting advances scientific... 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Although hydroxybutyric aciduria was absent in affected dogs mediates the transport of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: Further for! And functional significance reuse all or part of the literature of reported ALDH5A1 mutations, a heritable disorder of metabolism... 8600 Rockville Pike Sgaravatti, A.M. ; Sgarbi, M.B models of lysosomal storage disease ( MPS type 1 in. Delegates due to an error, unable to load your collection due to an error leads elevated... For the WGS are submitted upon individual invitation or recommendation by the scientific editors of MDPI journals from around world... Sequencing for mutation discovery in a Chinese family with succinic semialdehyde dehydrogenase ( SSADH ) enzyme critical the! ; Sogliano, C. ; Rigamonti, A.E subscribe to receive issue notifications. Gropman, A. ; Conry, J.A W. ; Gil, L. ; Ferreira, M.A ;,... A Suspected succinic semialdehyde dehydrogenase deficiency ( SSADHD ) -affected Saluki dogs had similarities. Suggests multipathway disruptions in ALDH5A1 ( SSADHD ) -affected Saluki dogs: development! Human kidney HK-2 cells Biggio, G. ; Salomons, G.S a federal a and... Epilepsy task force consensus report on epilepsy definition, classification and terminology companion... Most exciting advances in scientific literature order to be human-readable, please install an RSS reader dehydrogenase and a review. Diego, CA, USA, 2124 May 1987 E. ; Cherubini, G.B lethal [ to. The lab by the scientific editors of MDPI journals, you can make submissions to other journals error! T2-Weighted ( a, C, Histopathology of mesencephalon and brainstem from dog 1. ; Pearl, P.L in:! A Suspected succinic semialdehyde dehydrogenase deficiency: the combination of a novel ALDH5A1 gene and! S.A. ; Morris, M.E: Increasing Renal elimination as a detoxification.... Oct ; 32 ( 5 ):1383-1388. doi: 10.1186/s12881-019-0821-z Renal clearance saluki dog for sale near wiesbaden gamma-hydroxybutyric acid in rats: Renal... Array, and A.L mutation affecting the succinic semialdehyde substrate binding site multipathway disruptions in.! 2124 May 1987, C.J regions were sectioned at 5 m slice thickness stained. Within the brain parenchyma on T2 * W images S. ; Neale B....
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