Christina T Lam, MD

Christina T Lam, MD

Biochemical Genetics, Clinical Genetics, Non-Malignant Transplant Program

On staff since July 2016

Children's Title: Medical Director, Biochemical Genetics; Program Director, Medical Biochemical Genetics Fellowship

Academic Title: Associate Professor

Research Center: Center for Integrative Brain Research

  • Biography

    Christina Lam, MD is an attending physician at Seattle Children's Hospital (SCH) and Associate Professor in the Department of Pediatrics at the University of Washington School of Medicine (UW). She joined UW/SCH after completing her pediatric and medical genetics residency at the University of California Los Angeles, and her medical biochemical genetics fellowship at the National Institutes of Health. She provides inpatient and outpatient clinical services in biochemical genetics at Seattle Children's Hospital and at the University of Washington Medical Center.

    Dr. Lam’s clinical and research interest is in congenital disorders of glycosylation (CDGs). She is the director of the Center of Excellence for CDGs at Seattle Children's. Her research focuses on clinical aspects of inborn errors of metabolism, especially in CDGs and NGLY1-CDDG. She is the site principal investigator and lead of the natural history for the Frontiers in Congenital Disorders of Glycosylation Consortium, a member of the Rare Diseases Clinical Research Network. She is involved with development and trials of novel therapies for treatment of CDGs and other inborn errors of metabolism. She is also a member of the medical advisory committee of CDG-Care, a patient advocacy group for individuals with congenital disorders of glycosylation.

  • Patient Testimonials

  • Awards and Honors

    Award Name Award Description Awarded By Award Date
    Society for Inherited Metabolic Disorders Travel Award SIMD 2015
    National Urea Cycle Disorders Foundation Travel Award NUCDF 2012
    Upper Class Merit Award Scholarship Caltech 2001 - 2003
  • Publications

    Other Publications

    • Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, UW Center for Mendelian Genomics., Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA
      Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
      35790351 Journal of medical genetics, 2022 Jul 5
    • Zhang T, Duong P, Dayuha R, Collins CJ, Beckman E, Thies J, Chang I, Lam C, Sun A, Scott AI, Thompson J, Singh A, Khaledi H, Gelb MH, Hahn SH
      A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
      35787971 Molecular genetics and metabolism, 2022 Jun 28
    • Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC
      ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
      35716054 Journal of inherited metabolic disease, 2022 Jun 18
    • Ligezka AN, Mohamed A, Pascoal C, Ferreira VDR, Boyer S, Lam C, Edmondson A, Krzysciak W, Golebiowski R, Perez-Ortiz J, Morava E
      Patient-reported outcomes and quality of life in PMM2-CDG.
      35491370 Molecular genetics and metabolism, 2022 June : 136(2)145-151
    • Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E
      Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
      34652821 Annals of neurology, 2021 Dec. : 90(6)887-900 PMCID:PMC8820356
    • Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, Chabrol B, Cosson C, Díaz JLD, D'Harlingue A, Dimmock D, Freeman AF, García MT, Garganta C, Goerge T, Halbach SS, de Laffolie J, Lam CT, Martin L, Martins E, Meinhardt A, Melki I, Ombrello AK, Pérez N, Quelhas D, Scott A, Slavotinek AM, Soares AR, Stein SL, Süßmuth K, Thies J, Ferreira CR, Schiff M
      Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
      34040193 Genetics in medicine : official journal of the American College of Medical Genetics, 2021 Sept. : 23(9)1604-1615 PMCID:PMC8463480
    • Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, University of Washington Center for Mendelian Genomics., King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE
      Targeted long-read sequencing identifies missing disease-causing variation.
      34216551 American journal of human genetics, 2021 Aug 5 : 108(8)1436-1449 PMCID:PMC8387463
    • Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K
      Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
      34140212 Molecular genetics and metabolism, 2021 Aug. : 133(4)397-399 PMCID:PMC8754259
    • Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA, University of Washington Center for Mendelian Genomics (UW-CMG)., Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C
      Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
      33583022 Journal of inherited metabolic disease, 2021 July : 44(4)987-1000 PMCID:PMC8282734
    • Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, He M, Freeze HH, Morava E
      Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
      33632285 Orphanet journal of rare diseases, 2021 Feb 25 : 16(1)102 PMCID:PMC7908710
    • Norris MK, Scott AI, Sullivan S, Chang IJ, Lam C, Sun A, Hahn S, Thies JM, Gunnarson M, McKean KN, Merritt JL 2nd
      Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
      33085788 JPEN. Journal of parenteral and enteral nutrition, 2021 Feb. : 45(2)230-238
    • Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E
      Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
      33413482 Orphanet journal of rare diseases, 2021 Jan 7 : 16(1)20 PMCID:PMC7788939
    • Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
      International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
      32681750 Journal of inherited metabolic disease, 2021 Jan. : 44(1)148-163 PMCID:PMC7855268
    • Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C
      Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
      33044030 American journal of medical genetics. Part A, 2021 Jan. : 185(1)213-218 PMCID:PMC8098812
    • Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT
      The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
      32553838 The Journal of pediatrics, 2020 Nov. : 226202-212.e1 PMCID:PMC7736066
    • Ferreira LD, Borges-Medeiros RL, Thies J, Schnur RE, Lam C, de Oliveira JRM
      Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.
      31321892 American journal of medical genetics. Part A, 2019 Nov. : 179(11)2228-2232
    • Chang IJ, Byers HM, Ng BG, Merritt JL 2nd, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C
      Factor VIII and vWF deficiency in STT3A-CDG.
      30701557 Journal of inherited metabolic disease, 2019 March : 42(2)325-332 PMCID:PMC6658093
    • Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
      International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
      30740725 Journal of inherited metabolic disease, 2019 Jan. : 42(1)5-28
    • Chang IJ, He M, Lam CT
      Congenital disorders of glycosylation.
      30740408 Annals of translational medicine, 2018 Dec. : 6(24)477 PMCID:PMC6331365
    • Whitley BN, Lam C, Cui H, Haude K, Bai R, Escobar L, Hamilton A, Brady L, Tarnopolsky MA, Dengle L, Picker J, Lincoln S, Lackner LL, Glass IA, Hoppins S
      Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
      30085106 Human molecular genetics, 2018 Nov 1 : 27(21)3710-3719 PMCID:PMC6196655
    • Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C
      COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
      29637272 Pediatric nephrology (Berlin, Germany), 2018 July : 33(7)1257-1261 PMCID:PMC5990461
    • Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM
      Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
      29550355 Molecular genetics and metabolism, 2018 May : 124(1)82-86
    • Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases Network., Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, GEM HUGO., Deciphering Developmental Disorders Study., Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S
      De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
      29100089 American journal of human genetics, 2017 Nov 2 : 101(5)768-788 PMCID:PMC5673671
    • Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ
      Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.
      28063873 The Journal of allergy and clinical immunology, 2017 July : 140(1)291-294.e4 PMCID:PMC5496781
    • Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L
      Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
      27388694 Genetics in medicine : official journal of the American College of Medical Genetics, 2017 Feb. : 19(2)160-168 PMCID:PMC7477955
    • Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics., Matthijs G, Freeze HH
      ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
      26931382 Human mutation, 2016 July : 37(7)653-60 PMCID:PMC4907823
    • Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA
      Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
      25943031 Molecular genetics and metabolism, 2015 June : 115(2-3)128-40
    • Jelena B, Christina L, Eric V, Fabiola QR
      Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.
      24715709 American journal of medical genetics. Part A, 2014 June : 164A(6)1512-9
    • Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ
      Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
      24485820 The Journal of pediatrics, 2014 April : 164(4)720-725.e6 PMCID:PMC4070427
    • Lam C, Gallo LK, Dineen R, Ciccone C, Dorward H, Hoganson GE, Wolfe L, Gahl WA, Huizing M
      Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
      24749080 Molecular genetics and metabolism reports, 2014 Jan 1 : 1114-123 PMCID:PMC3987911
    • Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA
      Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
      24103308 Molecular genetics and metabolism, 2013 Dec. : 110(4)477-83
    • Lam C, Wong D, Cederbaum S, Lim B, Qu Y
      Peanut consumption increases levels of plasma very long chain fatty acids in humans.
      22864056 Molecular genetics and metabolism, 2012 Nov. : 107(3)620-2
    • Sun A, Lam C, Wong DA
      Expanded newborn screening for inborn errors of metabolism: overview and outcomes.
      22789580 Advances in pediatrics, 2012 : 59(1)209-45
    • Lam C, Desviat LR, Perez-Cerdá C, Ugarte M, Barshop BA, Cederbaum S
      45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?
      21549625 Molecular genetics and metabolism, 2011 Aug. : 103(4)338-40
    • Lam C, Wolfe L, Need A, Shashi V, Enns G, Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A
      NGLY1-Related Congenital Disorder of Deglycosylation
      29419975 1993
    • Lam C, Krasnewich DM, Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A
      20301289 1993
    • Lam C, Wolfe L, Need A, Shashi V, Enns G, Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A
      NGLY1-Related Congenital Disorder of Deglycosylation
      29419975 1993
  • Presentations

    Presentation Title Event Location Date
    The Role Natural History Studies Play in Advancing Research for CDGs & NGLY1 CDG-Care Family Conference San Diego, CA 2022
    X-linked Adrenoleukodystrophy in the Era of Newborn Screening: Cases on the Margin APHL 2021 Newborn Screening Virtual Symposium Virtual 2021
    Natural History Studies in CDGs and NGLY1 Putting Rare Diseases Patients First and CDG-Care Webinar on the ABCs of Clinical Trials for the CDG/NGLY1 Community Virtual 2021
    Congenital Disorders of Glycosylation, A Sweet Branch of Neurometabolics NYU School of Medicine Child Neurology Grand Rounds New York, NY and Virtual 2020 - 2020
    CDG Genetics and Introduction to Gene Therapy CDG-Care Family Conference San Diego, CA 2020 - 2020
    Frontiers in Congenital Disorders of Glycosylation – Natural History Project 4th World Conference on CDG Lisbon, Portugal 2019 - 2019
    Genetics and CDGs CDG-Care Family Conference San Diego, CA 2018 - 2018
    The Clinical Spectrum of the CDG Rainbow CDG Family Conference Del Mar, California, USA 2016
    A Sweet Branch of Metabolic Genetics Genetics Case Conference NIH, Bethesda, MD 2015
    Saliva and Tears: A Clinical Introduction to NGLY1 Deficiency Clinical Glycobiology Meeting NIH, Bethesda, MD, USA 2015
    Clarifying the phenotype of NGLY1 deficiency, the first congenital disorder of deglycosylation Society of Inherited Metabolic Disorders Salt Lake City, UT, USA 2015
    Congenital Disorders of Glycosylation: a Sweet Branch of Metabolism Freeze Group Meeting Sanford Burnham Medical Research Institute, La Jolla, CA 2015
    NGLY1 Deficiency: A New Neuro-Developmental Disorder and First Congenital Disorder of Deglycosylation Neurology Grand Rounds Universtiy of Utah, Salt Lake City, UT, USA 2015
    6 and 7 Year Old Siblings with Severe Developmental Delay, Intractable Seizures, and Craniofacial Dysmorphology NIDRC Clinicopathological Conference Bethesda, MD 2015


Board Certification(s)

Medical Genetics, Clinical Genetics (M.D.)
Medical Biochemical Genetics

Medical/Professional School

University of California Los Angeles, Los Angeles, CA


Mattel Children's Hospital at UCLA Medical Center, Los Angeles, CA
National Institutes of Health, NIH, Bethesda, MD


National Institutes of Health, NIH, Bethesda, MD

Clinical Interests

Inborn errors of metabolism

Research Description

Congenital disorders of glycosylation and deglycosylation

Research Focus Area

Translational Research