Patricia A Galvin-Parton, MD

For over 25 years, she has worked on Long Island to identify and treat newborns with metabolic disorders, many of whom are now adults who still follow at her Metabolic Clinic. Dr Parton’s love for science developed early on during high school science fairs. During her pediatric residency, her interest in birth defects, chromosomes, and especially inborn errors of metabolism continued to grow. Early in her career, she significantly contributed to infant formula research designed to treat newborns and children with metabolic disorders. The specialized formulas helped children to have more at-home time with their families. Dr. Parton's passion quickly grew to identify and treat infants with metabolic disorders, by determining the correct cofactors and formulas to improve growth and development. She is an active committee member of The New York State Newborn Screen program. Dr. Parton's clinic is a designated Center of Excellence for Metabolic Disorders. 

Dr Parton also has a keen interest in chromosome abnormalities, intellectual disabilities, dysmorphic features, neurogenetic disorders such as neurofibromatosis, and birth defects, such as cleft lip and palate and heart malformations which may be a part of a greater Syndrome. She works with the families of children with these special needs, trying to uncover etiology, providing them with supportive understanding, and looking for treatment possibilities. She enjoys providing personalized care to these patients and loves working with children and families to diagnose and manage Genetic disorders.

Dr. Parton is also involved with teaching Residents and Medical students to provide them with tools to help treat Genetic investigations. Dr Parton works with a team of Genetic Counselors, a Nurse Practitioner, and a metabolic dietician with a wide spectrum of experience with genetic and metabolic conditions here on Long Island. She values and mentors her team to ensure they spend quality time listening to patients and relaying pertinent information to ensure patients understand the condition. Dr Parton loves living on Long Island with her family and enjoys the beaches, skiing together, and rooting for home sports teams.

Newborn screening for Krabbe disease in New York State: the first eight years' experience. Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; Genetics in medicine: official journal of the American College of Medical Genetics, 2016 Mar

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernandez-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L; Human mutation, 2015 Nov

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M; Molecular genetics and metabolism, 2010 Mar

Newborn screening for Krabbe disease: the New York State model. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP; Pediatric neurology, 2009 Apr

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeon D, Stanley C, Wilson TA; Clinical genetics, 2007 Jun

The genetic basis for bronchopulmonary dysplasia. Parton LA, Strassberg SS, Qian D, Galvin-Parton PA, Cristea IA; Frontiers in bioscience: a journal and virtual library, 2006

Screening for GALC to make neonatal diagnosis and initial neonatal stem cell treatment with umbilical cord blood. Galvin-Parton PA; Pediatric transplantation, 2003 Apr

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Yannicelli S, Acosta PB, Velazquez A, Bock HG, Marriage B, Kurczynski TW, Miller M, Korson M, Steiner RD, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold GL; Molecular genetics and metabolism, 2003 Sep-Oct

Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. Lane AH, Aijaz N, Galvin-Parton P, Lanman J, Mangano R, Wilson TA; American journal of medical genetics, 2002 Jul 1

Congenital nasal pyriform aperture stenosis associated with central diabetes insipidus. Godil MA, Galvin-Parton P, Monte D, Zerah M, Purandare A, Lane AH, Wilson TA; The Journal of pediatrics, 2000 Aug

Induction of Galphaq-specific antisense RNA in vivo causes increased body mass and hyperadiposity. Galvin-Parton PA, Chen X, Moxham CM, Malbon CC; The Journal of biological chemistry, 1997 Feb 14

Abnormal oligosaccharide pattern in glycogen storage disease type III. Galvin-Parton P, Hommes FA; Journal of inherited metabolic disease, 1996

Signal transduction via G-protein-linked receptors: physiological regulation from the plasma membrane to the genome. Malbon CC, Berrios M, Guest SJ, Hadcock JR, Morris GM, Galvin-Parton PA, Wang HY; The Chinese journal of physiology, 1991

Retinoic acid modulation of transmembrane signaling. Analysis in F9 teratocarcinoma cells. Galvin-Parton PA, Watkins DC, Malbon CC; The Journal of biological chemistry, 1990 Oct 15