Amy Goldstein, MD Amy Goldstein, MD, is an attending physician with the Division of Human Genetics at Children’s Hospital of Philadelphia. Areas of Expertise: Mitochondrial disease, Clinical child neurology Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) Education and Training Medical SchoolMD – University of Pittsburgh, Pittsburgh, PA InternshipPediatrics - Mercy Children's Medical Center, Pittsburgh, PA ResidencyPediatrics – Mercy Children’s Medical Center, Pittsburgh, PA Child Neurology - University of Pittsburgh Medical Center, Pittsburgh, PA Child Neurology – University of Pittsburgh Medical Center, Pittsburgh, PA Additional TrainingPost-Sophomore Fellowship in Pathology - University of Pittsburgh School of Medicine, Pittsburgh, PA Board CertificationPediatricsPsychiatry and Neurology Titles and Academic Titles Attending PhysicianAssociate Professor of Clinical Pediatrics, Perelman School of Medicine at the University of Pennsylvania Conditions Treated Mitochondrial Disease Departments and Services Mitochondrial MedicineDivision of Human Genetics Publications Papers2017 Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS, Care4Rare Canada Consortium, McFarland R, Vanderver A,: RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss - another Mendelian mimicker of congenital CMV infection. Pediatr Neurol. 66: 59-62, Jan 2017. 2016 Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. : Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 118(3): 178-184, 2016. Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 88(23): 2171-2180, 2016. Koenig MK, Emrick L, Karaa A, Korson M, Scaglia F, Parikh S, Goldstein A.: Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. JAMA Neurol. 73(5): 591-594, 2016. Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J.: Mitochondrial respiratory chain disorders in the Old Order Amish population. Mol Genet Metab. 118(4): 296-303, 2016. Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN: Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 16( S0002-9297): 30390-30391, 2016. Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, HouÅ¡tÄ›k J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R: The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet 53(1): 768-775, Nov 2016. 2015 Prabhu D, Goldstein A, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M.: Short Communication: ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics. Mol Genet and Metab Rep. 3: 43-46, 2015. Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. : Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study. Lancet Neurol. 14(12): 1182-1195, 2015. Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U.: A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders. Am J Med Genet A. 167A(8): 1921-1926, 2015. Asato, M.R., Goldstein, A.C. and Schiff, M. : Autism and inborn errors of metabolism: how much is enough?. Dev Med Child Neurol 57: 788-789, 2015. 2013 Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G. : The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. Hum Genet. 132(10): 1177-1185, 2013. Belachew D, Kazmerski T, Libman I, Goldstein AC, Stevens ST, Deward S, Vockley J, Sperling MA, Balest AL.: Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures. JIMD Rep. 11: 17-24, 2013. 2012 Girirajan S, Rosenfeld J, Coe P, Parikh S, Friedman N, Goldstein A, Filipink R, McConnell J, Angle B, Meschino W, Nezarati M, Asamoah A, Jackson K, Gowans G, Martin J, Carmany E, Stockton D, Christison A, Schnur R, Penney L, Martin D, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov D, Escobar L, El-Khechen D, Johnson K, Lebel R, Siefkas K,Ball S, Shur N, McGuire M, Brasington C, Spence JE, Martin L, Clericuzio C, Ballif B, Shaffer L and Eichler E: Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 367(14): 1321-1331, 2012. 2011 Kortum F, Das S, Flindt M, Morris-Rosendahl D, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh L, Wieczorek D, Uvanik G, Kutsche K, Dobyns W. : The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 48: 396-406, 2011. 1999 Sokol MS, Gray NS, Goldstein A, Kaye WH.: Methylphenidate Treatment for bulimia nervosa associated with a cluster B personality disorder. Int J Eat DIisorder. 25(2): 233-237, 1999. BooksChapters 2017 Furman J and Goldstein A: "Vertigo" in Swaiman's Pediatric Neurology 6th edition Elsevier Ltd, London, UK (eds.). May 2017. 2015 Goldstein, A. : Chapter 20: MPV17-Related Hepatocerebral MitochondrialDNA (mtDNA) Depletion Syndrome. Mitochondrial Case Studies, Academic Press, Elsevier, London, UK (eds.). Dec 2015. Goldstein, A. : Chapter 10: Maternally Inherited (Mitochondrial) Diabetes Mitochondrial Case Studies. Mitochondrial Case Studies. Academic Press, Elsevier, London, UK, Dec 2015. 2008 Goldstein A, : "Inborn Errors of Metabolism", In: Pediatrics in a Page. Blackwell Publishing, Inc, 2008. Goldstein A: "Inborn Errors of Metabolism" In: Pediatrics in a Page Blackwell Publishing, Inc. Second Edition, 2008. 2003. Posters and Presentations2016 Jindal A, Thakkar K, Vento J, Goldstein A. : Neuropsychological outcomes in pediatric patients with genetically confirmed episodic ataxia type 2. Child Neurology Society, Vancouver, British Columbia, Canada, Poster Presentation October 2016. Acord S, Goldstein A, Asato M, Zuccoli G. : Infection unmasking symptoms of underlying POLG-related disease. Child Neurology Society, Vancouver, British Columbia, Canada, Poster Presentation October 2016. Goldstein, A. : Organ Transplant in Mitochondrial Disease: Proceed with Caution. Mitochondrial Medicine Society, Mitochondrial Medicine 2016: Seattle, WA, Poster Presentation June 2016. Goldstein, A. Ghaloul-Gonzalez, L. Dobrowolski, S. Walsh-Vockley, C. Trani, A. Wayburn, D. Morton, H. Vockley, J. : Mitochondrial Respiratory Chain Disorders in the Old Order Amish Population. Mitochondrial Medicine: Developing New Treatments for Mitochondrial Disease. Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom. Poster Presentation May 2016. Goldstein, A. : The History of the Mitochondrial Medicine Society and Advancement of Mitochondrial Global Networks for international Collaboration. Mitochondrial Medicine: Developing New Treatments for Mitochondrial Disease. Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom. Poster Presentation May 2016. Wang Y, Palmfeldt J, Gregersen N, Makhov A, Conway J, Goldstein A, Ghaloul-Gonzalez L, Alharbi H, Wang M, Zeng X, Yates N, Vockley J.: Characterizing the molecular architecture of mitochondrial energy metabolism apparatus and its importance to clinical pathophysiology, Society for Inherited Metabolic Disorders, 39th Annual Meeting, Ponte Vedra Beach, Florida Poster Presentation April 2016. 2015 Ulrick, N. Goldstein, A. Simons, C. Taft, R. Helman, G. Pizzino, A. Bloom, M. Vogt, J. Pysden, K. Diodato, D. Monavari, A. Bernard, G. Van Karnebeek, C. Vanderver, A.: Leukoencephalopathy with Temporal Lobe Cysts and Hearing Loss, caused be RMND1 Mutations. Annual Meeting of the Child Neurology Society, Washington, DC, Poster Presentation October 2015. Goldstein, A., Heuer, B., Gardner, K.: Case report: Diffuse ganglioneuromatosis of the small intestine in a 15 year-old girl with intestinal dysmotility and Neurofibromatosis-1: treatment considerations. 2015 NF Conference: Child Tumor Foundation, Monterey, CA, Poster Presentation June 2015. Goldstein, A. Ghaloul-Gonzalez, L. Dobrowolski, S. Walsh Vockley, C. Irani, A. Wayburn,B. Holmes Morton, D. Jockley, J.: Mitochondrial Respiratory Chain Disorders in the Old Order Amish Population. Mitochondrial Medicine 2015: United Mitochondrial Disease Foundation, Washington, DC, Poster Presentation June 2015. El-Gharbawy, A., Sebastian, J., Ghaloul-Gonzalez, L., Mroczkowski, J., Goldstein, A., Venkat, V., Dobrowolski, S., Squires, R. and Vockley, J.: LARS mutations in non- Irish travelers: an under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress. Mitochondrial Medicine 2015: United Mitochondrial Disease Foundation, Washington, DC, Poster Presentation June 2015. Dasyam, N., Gardner, K., Torok, K.S., Goldstein, A.C.: Increasing the index of Suspicion of Parry-Romberg Syndrome in patients with Hemifacial atrophy. 2015 NF Conference: Child Tumor Foundation, Monterey, CA, Poster Presentation June 2015. Goldstein, A., Ghaloul-Gonzalez, L., Dobrowolski, S., Vockley, C.W., Irani, A., Rayburn, B., Holmes Morton, D., Vockley, J.,: Mitochondrial Respiratory Chain Disorders in the Old Order Amish Population. Society of Inherited Metabolic Disorders, Salt Lake City, UT, Poster Presentation March 2015. El-Gharbawy, A., Sebastian, J., Ghaloul-Gonzalez, L., Mroczkowski, J., Goldstein, A., Venkat, V., Dobrowolski, S., Robert Squires, R. and Vockley, J.: LARS mutations in non- Irish travelers: an under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress. Society of Inherited Metabolic Disorders, Salt Lake City, UT, Poster Presentation March 2015. Invited Lectures 2017 Goldstein A. "Mitochondrial Disease What Is It and What are the Potential Therapies Out There?" Mitochondrial Family Meeting, UMDF New England Chapter, Aug, 2017. 2016 Goldstein A. "Mitochondrial Disorders", West Virginia University, Pediatric Noon Conference, Morgantown, West Virginia, Dec, 2016. Goldstein A. "Current Issues in the Management of Primary Mitochondrial Disease", Invited Speaker, PA-Northeast United Mitochondrial Disease Foundation Regional Symposium, Children's Hospital Of Philadelphia, University of Pennsylvania, Philadelphia, PA, Oct, 2016. Goldstein A. "Course Faculty", Society for Inherited Metabolic Disorders, North American Metabolic Academy, Caska, MN, Oct, 2016. Goldstein A. "Current Issues in the Management of Primary Mitochondrial Disease", Children's Hospital Of Philadelphia, University of Pennsylvania Mitochondria Research Affinity Group, Philadelphia, PA, Jul, 2016. Goldstein A. NIH/NINDS "Common Data Elements for Mitochondrial Disease", Seattle, WA, Jun, 2016. Goldstein A. "Behavioral Issues in Mitochondrial Disease", Mitochondrial Medicine 2016, Seattle, Washington, Jun, 2016. Goldstein A. "Mitochondrial Medicine Society update 2016" Teleconference for MitoAction, Pittsburgh, PA, Apr, 2016. Goldstein A. "Genetics of Autism Spectrum Disorder: What We Know and How to Use It", American Academy of Neurology Annual Meeting, Vancouver, CanadaApr, 2016, Apr, 2016. 2015 Goldstein A. "Metabolic Case Discussions Group", Society for Inherited Metabolic Disorders, North American Metabolic Academy, Vernon, NJ, Oct, 2015. Goldstein A. "Course Faculty," Society for Inherited Metabolic Disorders, North American Metabolic Academy, Vernon, NJ, Oct, 2015. Awards and Honors 2015, United Mitochondrial Disease Foundation, Service/Dedication/Commitment Award 2013, Pittsburgh Magazine, Best Doctors: and Pediatrics 2012-2016, Pittsburgh Magazine, Best Doctors: Pediatrics, confirmed annually 2011, Competitive Course in Scientific Management and Leadership, selected and completed 2008, Overall Patient Satisfaction Award, Children's Hospital of Pittsburgh 2008, Special recognition, inpatient phone survey, Children's Hospital of Pittsburgh 2008, "Five Star Excellence Award", Professional Research Consultants, Inc., For scoring in the top 10% nationally for "Excellent" responses, Overall Quality of Doctor Care, Pediatrics 2007, "Praise from Patients" Honoree, Children's Hospital of Pittsburgh 2007, Special recognition, inpatient phone survey, Children's Hospital of Pittsburgh 2002, American Headache Society, Clinical Headache Fellowship Award 2002, American Headache Society, Clinical Headache Fellowship Award, University of Pittsburgh Headache Center and Children's Hospital of Pittsburgh 1987, Order of Omega, National Honor Society Editorial and Academic Positions Editorial Positions 2016, Invited Ad Hoc Reviewer, Peer Reviewed Medical Research Program (PRMRP), Department of Defense, Mitochondrial Disease 2012-present, Reviewer, Neurotherapeutics 2012-present, Guest Peer Reviewer, Genetics in Medicine 2010-present, Editorial Board, Pediatric Neurology 2007-present, Editorial Board, Journal of Child Neurology 2007-present, Peer Reviewer, Journal of Inherited Metabolic Disease 2006-present, Peer Reviewer, Mitochondrion Leadership and Memberships Memberships in Professional Organizations 2016-present, Mitochondrial Disease Community Registry (MDCR), Advisory Board 2015-present, North American Mitochondrial Disease Consortium (NAMDC), Executive Committee 2007-present, United Mitochondrial Disease Foundation (UMDF) - 2015-present, Scientific and Medical Advisory Board - 2013-present, Abstract Review Committee Grant Review - 2012-present, Clinical Research Committee - 2011-present, Strategic Planning Steering Committee - 2011-present, National Symposium Strategic Planning Steering Committee - 2007-2015, Board of Trustees 2007-present, Neurofibromatosis Clinics Association, Inc.(NFCA) 2007-present, utism Treatment Network (ATN) 2004-present, Society for Inherited Metabolic Disorders 2004-present, Mitochondrial Medicine Society - 2014-present, President 2000-present, Child Neurology Society Patient Experience Ratings About the Patient Experience Rating System The Patient Experience Rating is an average of all responses to the care provider related questions shown below from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question. Responses are measured on a scale of 1 to 5 with 5 being the best score. The comments are submitted by patients and families and reflect their views and opinions. The comments are not endorsed by and do not reflect the views of Children’s Hospital of Philadelphia.