Seymour Packman
Professor Emeritus
+1 415 476-2871
+1 415 476-9976

Education and Training

M.D., 1968 School of Medicine, Washington University

Publications

Alioto AG, Gomez R, Moses J, Paternostro J, Packman S, Packman W. Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1. Am J Med Genet A. 2020 Mar 03.
Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2019 04; 21(4):887-895.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]. Mol Genet Metab. 2018 12; 125(4):360.
Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. Am J Hematol. 2017 Nov; 92(11):1170-1176.
Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017 11; 122(3):76-84.
Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT. Ocular findings in a patient with fucosidosis. Am J Ophthalmol Case Rep. 2016 Dec; 4:83-86.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11; 375(6):545-55.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 2016 07; 118(3):206-13.
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May; 52(5):353-8.
Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015 Feb 17; 313(7):695-706.
Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. Health-Related Quality of Life in Patients with MPS II. J Genet Couns. 2015 Aug; 24(4):635-44.
Needham M, Packman W, Rappoport M, Quinn N, Cordova M, Macias S, Morgan C, Packman S. MPS II: adaptive behavior of patients and impact on the family system. J Genet Couns. 2014 Jun; 23(3):330-8.
Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. JIMD Rep. 2014; 13:37-41.
Packman W, Crosbie TW, Behnken M, Eudy K, Packman S. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet A. 2010 Aug; 152A(8):2002-10.
Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S191-8.
Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J. 2010 May; 31(9):1088-97.
Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, type B. Am J Med Genet A. 2009 Nov; 149A(11):2430-6.
Crosbie TW, Packman W, Packman S. Psychological aspects of patients with Fabry disease. J Inherit Metab Dis. 2009 Dec; 32(6):745-753.
Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul; 24(7):2102-11.
Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis. 2008 Dec; 31(6):738-44.
Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008 Sep; 2(3):390-4.
Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008 May; 73(5):430-40.
Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S. Psychosocial issues in families affected by maple syrup urine disease. J Genet Couns. 2007 Dec; 16(6):799-809.
VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S. Executive functioning in children and adolescents with phenylketonuria. Clin Genet. 2007 Jul; 72(1):13-8.
Weinreb N, Barranger J, Packman S, Prakash-Cheng A, Rosenbloom B, Sims K, Angell J, Skrinar A, Pastores GM. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet. 2007 Jun; 71(6):576-88.
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16; 146(2):77-86.
Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov; 70(5):1602-11.
Packman W, Wilson Crosbie T, Riesner A, Fairley C, Packman S. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis. 2006 Feb; 29(1):99-105.
Enns GM, Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S. Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle. Clin Genet. 2005 Oct; 68(4):337-48.
Sanchez R, Etzell J, Kim G, Packman S, Fairley C, Goldsby R. Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease. J Clin Oncol. 2005 Jul 20; 23(21):4792-3.
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005 Mar 01; 133A(2):197-201.
Zlatunich CO, Packman S. Galactosaemia: early treatment with an elemental formula. J Inherit Metab Dis. 2005; 28(2):163-8.
Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004 Jan-Feb; 24(1):97-101.
Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1184-7.
Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 2003 May; 24(5):916-21.
Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6.
Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol. 2003 Mar; 24(3):390-3.
Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr; 112(4):364-8.
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18; 138(4):338-46.
Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. J Inherit Metab Dis. 2003; 26(1):55-66.
Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun; 24(3):328-36.
Mathias RS, Kostiner D, Packman S. Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidney Dis. 2001 May; 37(5):1069-80.
Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr. 2000 Feb; 136(2):251-4.
Enns GM, Martinez DR, Kuzmin AI, Koch R, Wakeem CK, Woo SL, Eisensmith RC, Packman S. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pediatr Res. 1999 Nov; 46(5):594-602.
Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J Inherit Metab Dis. 1999 Jun; 22(5):599-607.
Kuo YM, Gitschier J, Packman S. Developmental expression of the mouse mottled and toxic milk genes. Adv Exp Med Biol. 1999; 448:109-14.
Howard R, Frieden IJ, Crawford D, McCalmont T, Levy ML, Rosenblatt DS, Sweetman L, Goodman SI, Ohnstad C, Hart K, Berrios M, Packman S. Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. Arch Dermatol. 1997 Dec; 133(12):1563-6.
Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kølvraa S, Gregersen N. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet. 1997 May; 6(5):695-707.
Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, Henslee-Downey J, Trigg ME, Cowan MJ, Sanders J, Bunin N, Weinstein H, Lenarsky C, Falk P, Harris R, Bowen T, Williams TE, Grayson GH, Warkentin P, Sender L, Cool VA, Crittenden M, Packman S, Kaplan P, Lockman LA, Anderson J, Krivit W, Dusenbery K, Wagner J. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood. 1996 Jun 01; 87(11):4894-902.
Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis. 1996; 19(3):335-43.
Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet. 1995 Mar; 56(3):570-6.
Das S, Whitney S, Taylor J, Chen E, Levinson B, Vulpe C, Gitschier J, Packman S. Prenatal diagnosis of Menkes disease by mutation analysis. J Inherit Metab Dis. 1995; 18(3):364-5.
Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, Williams ML, Golabi M, Price VH. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings. J Invest Dermatol. 1994 Nov; 103(5 Suppl):154S-158S.
Fries MH, Kuller JA, Jurecki E, Packman S. Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. Clin Pediatr (Phila). 1994 Sep; 33(9):525-9.
Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Neurologic complications in galactosemia. Pediatr Neurol. 1992 May-Jun; 8(3):217-20.
Packman S, Whitney S. Fatty acid transport in multiple carboxylase deficiency fibroblasts. J Inherit Metab Dis. 1990; 13(5):716-20.
Packman S, Whitney SC, Fitch M, Fleming SE. Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. J Inherit Metab Dis. 1989; 12(1):47-57.
Lipson MH, O'Donnell J, Callahan JW, Wenger DA, Packman S. Ocular involvement in Niemann-Pick disease type B. J Pediatr. 1986 Apr; 108(4):582-4.
Gonzalez-Rios MC, Chuang DT, Cox RP, Schmidt K, Knopf K, Packman S. A distinct variant of intermediate maple syrup urine disease. Clin Genet. 1985 Feb; 27(2):153-9.