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Biochemical Genetics
2009 Annual Report: Seattle Children’s Hospital / University of Washington
CONTENTS:
Overview of the Program
Staff
Clinical Activities
Newborn Screening
Lysosomal Disorders
UCD program
Laboratory Updates
R&D Laboratory
Education/Training
Research Protocols
C. Ronald Scott Lecture Series
Awards, Grants, Honors
Extramural Presentations
Publications
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The Biochemical Genetics (also referred to as
Metabolic Genetics) program at Seattle Children’s
Hospital (SCH) and the University of Washington
(UW) continues to provide ongoing follow-up of over
1000 patients with inborn errors of metabolism.
Inborn errors of metabolism are inherited disorders
that cause a disruption or abnormality in one of the
biochemical pathways involved in the production or
breakdown of proteins, fats, or carbohydrates.
Biochemical Genetics continues the pace of
dramatic advances that have driven this specialty for
the last 10 years, particularly through expanded
newborn screening by tandem mass spectrometry
and the development of enzyme replacement
therapy as a primary treatment for lysosomal storage
disorders. Overwhelming clinical and laboratory
activities have been propelled by this new
technology and treatment. Our Biochemical
Genetics Program offers immediate resources for
intervention by a specialized team of physicians and
other specialized health care providers and is
supported by a diagnostic laboratory that aids in
diagnosis and management of children and adults.
Serving the large population of Washington State
and neighboring regions, the Biochemical Genetics
program provides a comprehensive multidisciplinary
evaluation, diagnosis and long-term management
program for patients and their families.
Subspecialty clinics include the Cristine M Trahms
Program for Phenylketonuria (PKU Clinic-UW),
Biochemical/Metabolic Genetics clinics (SCH/UW),
Lysosomal
Disorders
Clinic
(UW/SCH),
Mitochondrial Disorders Clinic (SCH), Urea Cycle
Disorders Clinic (SCH/UW), Metabolic Bone Clinic
(SCH), and the Wilson Disease Clinic (SCH).
Satellite clinics are held multiple times per year in
Spokane.
Our newborn screening follow-up program has
rapidly grown since the summer of 2008 expansion
of the Washington State Newborn Screening
program from 10 to 25 conditions.
We have
developed a tightly coordinated partnership between
the Department of Health Public Health Laboratory,
the
Biochemical
and
Molecular
Genetics
Laboratories (SCH) and our clinics at SCH and UW.
Our program serves as the medical home for many
of the patients with inherited metabolic disorders
from Washington and neighboring states.
BIOCHEMICAL GENETICS PROGRAM
STAFF
Attending Physicians
C. Ronald Scott, MD
Sihoun Hahn, MD, PhD
Michael Raff, MD
J. Lawrence Merritt, II, MD
Anne Leavitt, MD
Nurse Practitioner
Susan Hale, MN, ARNP (SCH/UW)
Genetic Counselors
Lisa Sniderman-King, MSc, CGC (SCH)
Penny Schubert, MS, CGC (SCH)
Angela Fox, MS, CGC (UW)
Stefanie Uhrich, MS, CGC (UW)
Metabolic Nutritionists
Cristine M Trahms, MS, RD, CD, FADA (UW)
Beth Ogata, MS, RD, CD (UW)
Janie Heffernan, MS, RD, CD (UW)
Maura Sandrock, MS, RD, CD (SCH)
Kelly McKean, MS, RD, CD (SCH)
Melissa Edwards, RD, CD (SCH)
The Newborn Screening Follow-up Program
Social Worker
Janet Garretson, MSW (UW)
Since newborn screening began in 1963 with PKU,
the Biochemical Genetics program has been
providing confirmatory diagnostic testing, clinical
treatment and care coordination for babies with
metabolic diseases from infancy to adulthood. The
Biochemical and Molecular Genetics Laboratory
staff works very hard to prioritize and analyze these
samples as quickly as possible. In May 2008, the
Washington State Board of Health unanimously
approved adding 15 new disorders to the newborn
screening panel. On July 21, 2008, screening for 14
new conditions officially started and then tyrosinemia
type I (TYR-I) was added in September, 2008.
Washington State is now screening for 6 amino acid
disorders, 5 fatty acid metabolic disorders, 7 organic
acid disorders and 7 other inherited disorders.
Details of each disorder can be found at
www.doh.wa.gov/nbs. In 2009, 75 cases were
referred for confirmation. Of those, 21 cases were
true positive including 4 Medium Chain AcylCoA
Dehydrogenase (MCAD) Deficiency, 6 PKU, 2 Very
Long Chain AcylCoA Dehydrogenase (VLCAD)
Deficiency, 2 Methylmalonic Acidemia,1 Maple
Syrup Urine Disease, 2 3-MethylcrotonylCoA
carboxylase (MCC) deficiency, 3 Glutaric Acidemia
(GA) type 1 and 1 Beta Ketothiolase deficiency were
included. All babies began treatment soon after birth
and are doing well. We are also actively involved
with the Western States Genetic Services
Collaborative (http://www.westernstatesgenetics.org/)
to study the outcomes of infants with abnormal
newborns screens and the long-term outcomes of
infants identified with Very Long-Chain Acyl-CoA
Dehydrogenase Deficiency.
2009 CLINICAL ACTIVITIES
In 2009, SCH and UW had over 1400 encounters
encompassing outpatient visits and inpatient
consultations with biochemical genetics.
Major
disorders seen in our clinic and hospital are
summarized in Table 1. Two subspecialties of our
program are highlighted below, but we see and
welcome any patient with metabolic disorders or who
needs evaluation regarding diagnosis, treatment or
ongoing medical care.

To refer a patient:
Seattle Children’s Hospital: Please visit the
website www.seattlechildrens.org and follow
instructions for Healthcare Professionals referral
process.
Alternatively, call 206-987-3012 for
additional information.
University of Washington: 206-598-1800
Table 1. Major Disorders in 2009 at SCH/UW
Clinic
Major Diseases in 2009
Encounters
Lysosomal Storage Disorder
455
Phenylketonuria
352
Organic Acid Disorder
34
Amino Acid Disorder
44
Urea Cycle Disorder
22
Peroxisomal Disorder
5
Fatty Acid Oxidation Disorder
88
Cobalamin metabolism Disorder
48
Mitochondrial Disorder
28
Ketone Utilization Disorder
27
Wilson Disease
24
Cystinosis
9
Muscle disease
3
Developmental Delay
39
Seizure Disorder
62
Hyperinsulinemia
3
Biotinidase deficiency
Carbohydrate metabolism disorders
consultation, examination, testing, diagnosis,
treatment, and genetic counseling for patients with
lysosomal diseases and their families. The patients'
medical home is centered in the biochemical
genetics team. The program is dedicated to the
management of these rare diseases and provides
care by UWMC and SCH specialists in many areas
of medicine including orthopedics, cardiology,
neurology, nephrology, pulmonary, otolaryngology
radiology and anesthesia. Our group will also work
with local hospitals to facilitate transition of treatment
to centers closer to each patient's home. Patient
education and support meetings are held frequently,
providing patients and their families an opportunity
to mingle with other families and hear about recent
advances in the field.
153
Failure to Thrive
Nephrogenic Diabetes Insipidus
The Lysosomal Disease (LSD) Program at
UW/SCH provides multidisciplinary care including
14
1
The clinic team follows a large cohort of patients
across the spectrum of LSDs as illustrated in Table 2
below. Up to now, treatment has been limited to
22
2
bone marrow or stem cell transplantation for a few
disorders and enzyme replacement for a few more.
Many are still untreatable. A more recent approach
is Substrate Reduction Therapy. This oral drug
slows the production of the accumulating lipid and is
able to enter the brain. It is FDA-approved for use in
Gaucher disease. Recent advances in industry
technology have led to the development of newer
modes of delivery, currently available under
research protocols, such as the intrathecal infusion
of enzyme replacement therapy (ERT) for Hunter
syndrome (MPS II), which allows the drug to reach
the brain. Another new development is an oral
pharmacological
chaperone
therapy,
which
stabilizes the misfolded enzyme protein, allowing it
to function rather than be degraded and may
ultimately be used alone or in conjunction with ERT.
A clinical trial of chaperone therapy for Fabry
disease is underway at our center. ERT using carrot
cells rather than mammalian cells as a medium for
production has been developed and is currently in
clinical trails with some Gaucher patients at our
center. Other clinical trials we are participating in
include the Fabry FIELD study, which compares
whether ERT infusions every 4 weeks are as
effective as every 2 weeks. The Myozyme
Temporary Access Program (MTAP) study for adults
with Pompe disease has allowed them access to
ERT while awaiting final FDA approval. Long term
follow-up of patients with these rare diseases is
essential. With IRB approval, we enter patient
medical information into global disease-specific
registries, contributing to the development and
improvement of management guidelines and
documenting the effects of new therapies on the
natural histories of these disorders.
to provide patients and families with a
comprehensive medical home that is centered on
the patient and family. Our mission is to provide
each patient with the knowledge, ability, and proper
tools to allow them to manage their disorder. The
biochemical genetics team is the core within a larger
program dedicated to the management of these
diseases and providing care by UWMC and SCH
specialists in many areas of medicine including
psychology,
neurodevelopment,
neurology,
gastroenterology, and organ transplant. The clinic
team follows a large cohort of patients across the
spectrum of UCDs. Our group also works with local
hospitals to coordinate the treatment of care during
acute emergencies and in routine follow-up closer to
each patient's home.
We are actively involved with that National Urea
Cycle Disorders Foundation (www.nucdf.org) and in
an international Longitudinal Urea Cycle Disorders
Consortium study to further improve the treatment,
improve the quality of life, and our understanding of
UCDs (http://rarediseasesnetwork.epi.usf.edu/ucdc/).
We are also actively involved in clinical research in
developing new therapies for treatments of UCDs
with industry and are investigating the long term
effects and ethics of newborn screening for UCDs.
BIOCHEMICAL GENETICS
LABORATORY UPDATE
Biochemical Genetics Laboratory (SCH)
Molecular Genetics Laboratory (SCH)
(http://www.seattlechildrens.org/geneticslab)
Table 2. Number of patients followed with
Lysosomal Storage Disorders
Lysosomal Storage Disorder
The
Biochemical
and
Molecular
Genetics
Laboratories (SCH) are led by Dr. Sihoun Hahn and
Dr. Rhona Jack and supported by Lisa SnidermanKing, a board-certified genetic counselor. High
volume tests in the lab are summarized in Table 3.
# Patients
Gaucher Disease
30
Fabry Disease
64
Pompe Disease
11
MPS I (Hurler Syndrome)
4
MPS II (Hunter Syndrome)
7
MPS III (Sanfilippo Syndrome)
5
MPS IV (Morquio Syndrome)
3
MPS VI (Maroteaux-Lamy Syndrome)
2
The
Biochemical
and
Molecular
Genetics
Laboratories serve as a key component of the
Biochemical Genetics Program. Combined, the two
labs offer 70 tests and tested over 7,000 patients in
2009. The lab activity is growing in conjunction with
the expansion of newborn screening, local clinics
and satellite/regional clinics. The laboratories
provide rapid, comprehensive diagnostic and
monitoring results along with guidance for follow-up.
Our laboratory is committed to high quality results.
To ensure accuracy, the laboratory is participating in
a variety of external proficiency testing programs
offered by various national and international
agencies (ERNDIM; European network, CAP;
College of American Pathologists, CDC; Center for
Disease Control). In 2009, the Biochemical and
The Urea Cycle Disorders (UCD) Program at
SCH provides multidisciplinary care including
consultation, examination, testing, diagnosis,
treatment, and genetic counseling for patients with
urea cycle disorders and their families. Our goal is
3
Molecular genetics laboratories had 100% success
rate for proficiency testing from CAP.
scientists. Dr. Valeria Vasta is working on
developing genetic testing by conventional
sequencing and multiplex gene analysis by next
generation sequencing. Dr. Xiulian Chen is working
on a project to develop mitochondrial enzyme
assays in muscle tissues. Dr. Sandra Kerfoot
recently joined our team as a research scientist and
is working on peptide analysis by tandem mass
spectrometry for various genetic conditions. The
ultimate goal for the laboratory is to serve as a
bridge between basic research and clinical practice.
Table 3. High Volume Tests in 2009
Test
Analytic Method
# Analyses
Fragile X
Fragment Analysis,
Southern Blot
553
Luminex (OLA)
285
Methylation PCR
103
Amino Acid
Analysis
HPLC
1456
Organic Acid
Analysis
GCMS
1272
Acylcarnitine
Analysis
MSMS
Metabolic Screens
Lysosomal
Enzymes
Factor V
Leiden/PTV
Prader Willi
/Angelman
Syndrome
Table 4. Clinical Tests Implemented from R&D in
2009
Disorder
Test
1120
LCHAD/TFP
HADHB DNA Sequencing
Colorometric
327
Spinal Muscular Atrophy
Carrier Testing
Duplication/deletion
(MLPA)
Fluorometric
912
POLG1 related disorders
POLG1 DNA Sequencing
POLG 2 related disorders
POLG2 DNA Sequencing
The Molecular Development Laboratory (UW)
Pompe Disease
GAA DNA Sequencing
(http://depts.washington.edu/moleclab)
Maturity onset diabetes of
the young (MODY)
HNF4A, GCK and HNF1A
DNA Sequencing
Neonatal Diabetes
KCNJ11, INS, ABCC8,
GCK DNA Sequencing
The molecular development lab is directed by Dr. C.
Ronald Scott, a pioneer in the area of research and
development for diagnosis and treatment of
metabolic disorders. Additional scientists, Jie-Yu
Huang, PhD and Norman Buroker, PhD, each have
25 years research experience in molecular biology.
The laboratory is in its fourth year and is a CLIA
certified clinical lab that offers DNA analysis for
lysosomal storage diseases: including Gaucher,
Pompe, and Fabry. In addition, the lab performs
diagnostic mutation analysis and/or sequencing for
several other disorders including Congenital
Sucrase-Isomaltase Deficiency and Tyrosinemia.
EDUCATION / TRAINING IN CLINICAL
BIOCHEMICAL GENETICS
The Biochemical Genetics training program at UW is
accredited by the American Board of Medical
Genetics and leads to eligibility to sit for the Clinical
Biochemical Genetics examination. The goal of the
program is to provide medical genetics residents
with a sound academic, clinical, and laboratory
understanding of the diagnosis, treatment and
management of patients with inborn errors of
metabolism. Two genetic residents, Dr. Mitzi Murray
and Dr. David Cobb had three month rotation in our
biochemical genetics program in 2009.
Research and Development Laboratory
The Biochemical Genetics Program is unique in
having a CLIA certified R&D laboratory. The center
is fully equipped with high technology including LCMS/MS (tandem mass spectrometry) and newly
purchased Next Generation Genome Analyzer
(Illumina). The lab is aiming at development of highly
complex tests in metabolomics and genomics. This
is truly translational research from bench to clinical
practice. The laboratory works in collaboration with a
large network of geneticists/scientists in order to
develop and validate tests that are critical for patient
diagnosis and management. The R&D Laboratory is
located in the Seattle Children’s Hospital Research
Institute and includes three dedicated development
Two neurology chief residents, Dr. Ann Hyslop and
Dr. Alana Golden had one month rotation in
biochemical genetics in 2009.
Dr. JH Byeon (October 23 – 31, 2009), pediatric
resident from Korea University Medical Center was
with us for a rotation with Biochemical Genetics at
Seattle Children’s. She observed patients with our
attending physicians at clinic and also participated in
rounding for in house patients.
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In partnership with the ABMG Fellowship program,
Seattle Children’s Biochemical Genetics Laboratory
will be sponsoring four Fellows in 2010 for rotations
in the Biochemical Genetics Laboratory.
Hyperion Therapeutics. This study compares the
safety and efficacy of a new oral treatment for
patients with urea cycle disorders.
2010 will also see three fellows, each rotating in
Biochemical Genetics for 3 months; David Cobb, MD
(Jan. – March) and two others later in the year.
Disease Registries:
The LSD Registry Program. Principal Investigators:
Dr. Sihoun Hahn, Susan Hale, ARNP and Lisa
Sniderman King, M.Sc. CGC. Funding: Genzyme
Corporation. Four long-term natural history studies
of treated and untreated patients with Gaucher,
Fabry, MPS I and Pompe diseases. These four
registries are also at UW with Principal Investigators
C. Ronald Scott, Stefanie Uhrich, MS, and Angela
Fox, MS.
CLINICAL RESEARCH PROTOCOLS AT
SEATTLE CHILDREN’S AND THE
UNIVERSITY OF WASHINGTON
Clinical Trials:
A Global Multi-Center, Long-Term, Observational
Survey of Patients with Hunter Syndrome
(Mucopolysaccharidosis II). Principal Investigators:
Dr. Sihoun Hahn, Susan Hale, ARNP and Lisa
Sniderman King, M.Sc. CGC. Funding: Shire Human
Genetic Therapeutics. A long-term natural history
disease registry of treated and untreated patients
with MPS II.
An Open-label Expanded Access Trial of Plant
Cell
Expressed
Recombinant
Human
Glucocerebrosidase (prGCD) in Patients with
Gaucher Disease Who Require Enzyme
Replacement Therapy. Principal Investigator: Dr. C.
Ronald Scott. Funding: Protalix Biotherapeutics.
This study provides access to an investigational new
enzyme for derived from plant cells for patients with
Gaucher disease.
The MPS VI Clinical Surveillance Program.
Principal Investigators: Dr. Sihoun Hahn, Susan
Hale, ARNP and Lisa Sniderman King, M.Sc. CGC.
Funding: BioMarin Pharmaceuticals. A long-term
natural history disease registry of treated and
untreated patients with MPS VI.
A Double-blind, Randomized, Placebo-controlled
Study to Evaluate the Efficacy, Safety and
Pharmacodynamics of AT1001 in Patients with
Fabry Disease and AT1001-Responsive GLA
Mutations. Principal Investigator: Dr. C. Ronald
Scott.
Funding:
Amicus
Therapeutics
Inc,
Investigation of a new oral chaperone therapy
treatment for adults with Fabry disease.
Longitudinal Study of Urea Cycle Disorders
Principal Investigator: Dr. J. Lawrence Merritt III.
Funding: NIH, NICHD, ARRA Supplement. A longterm natural history study of patients with urea cycle
disorders.
A Randomized, Multicenter, Multinational, Phase
3B, Open-Label, Parallel-Group Study of
Fabrazyme® (agalsidase beta) in TreatmentNaive Male Pediatric Patients with Fabry Disease
Without Severe Symptoms. Principal Investigator:
Dr. C. Ronald Scott. Funding: Genzyme Corporation.
This study looks at effects of low dose enzyme
replacement therapy in children with Fabry disease.
Laboratory Studies:
Validation of Next Generation Sequencing for
Mitochondrial Disorders. Principal Investigator: Dr.
Sihoun Hahn. Funding: The Mitochondrial Research
Guild. This study aims to develop a rapid, minimallyinvasive test to simultaneously sequence hundreds
of genes involved in mitochondrial disease.
Alglucosidase Alfa Temporary Access Program.
Principal Investigator: Dr. C. Ronald Scott. Funding:
Genzyme Corporation. This study provides
temporary access of enzyme replacement therapy to
individuals with Pompe disease until the FDA
approves the new manufacturing process and
sufficient commercial supply is available.
The Development of Genetic Analysis of the
Sucrase-Isomaltase
(SI)
Gene.
Principal
Investigator: C. Ronald Scott. Funding: QOL Medical,
Inc. A genotype-phenotype study comparing specific
mutations in individuals with a confirmed diagnosis
of Congenital Sucrase Isomaltase disease with
severity of symptoms and response to treatment.
A Phase 2, Fixed-Sequence, Open-Label, SwitchOver Study of the Safety and Tolerability of HPN100 Compared to Sodium Phenylbutyrate in
Children 6–17 Years of Age with Urea Cycle
Disorders, with a Long-Term Safety Extension
(Hyperion Protocol HPN-100-005). Principal
Investigator: Dr. J. Lawrence Merritt, III. Funding:
Newborn Screening for Lysosomal Storage
Disorders by Tandem Mass Spectroscopy.
Principal Investigator: Dr. C. Ronald Scott. Funding:
NIH. A pilot protocol to evaluate the feasibility,
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sensitivity and specificity of tandem mass
spectroscopy to detect lysosomal storage disorders
by newborn screening. Screening for Fabry disease
currently underway.
C. RONALD SCOTT LECTURE SERIES
ANNUAL PRESENTATION
This lecture series provides for presentations from
world experts in different aspects of inborn errors of
metabolism and has been made possible by a
generous grant from the Hunan Foundation. This
lecture series was established to honor the over 40
years of contribution by Dr. C. Ronald Scott to the
field of inherited metabolic diseases and his
dedicated service to families and patients.

FDA Clinical Study. A Phase 2, Fixed-Sequence,
Open-Label, Switch-Over Study of the Safety
and Tolerability of HPN-100 Compared to
Sodium Phenylbutyrate in Children 6–17 Years
of Age with Urea Cycle Disorders, with a LongTerm Safety Extension. 8/6/09-8/5/10 Hyperion
Inc.

FDA IND Approval: Emergency Use of Sodium
DL-3-Hydroxybutyrate for Treatment of Multiple
Acyl-CoA Dehydrogenase Deficiency (Glutaric
Acidemia type II).
Ron Scott, MD
The speaker this year was David Rosenblatt, MD,
Professor & Chair of the Department of Human
Genetics, McGill University, Montreal, Quebec,
Canada.
He gave a most interesting and
informational presentation titled “Vitamin B12: Can
You Teach an Old Vitamin New Tricks?” Dr.
Rosenblatt is arguably the premier expert on vitamin
B12 and his visit was a most memorable. The
lectures were made at SCH and the following day at
UW on the last Thursday and Friday of February.
This schedule will hold for upcoming lectures and if
you are interested in attending, please call 206-9873012 for further information.

Validation of Lysosomal Storage Disease
Enzymes for Newborn Screening, 9/30/066/30/2010

Multiplex Analysis of Inborn
Metabolism, 9/1/06-7/31/2013

PKU 007 : A Phase 2, Multicenter, Open-label
Study to Evaluate the Safety and Efficacy of
Phenoptin
in
Subjects
with
Hyperphenylalaninemia Due to Primary BH4
Deficiency, 12/19/06-7/31/09

Genetic Analysis of the Sucrase-Isomalase (SI)
Gene, 3/1/08-9/30/2010

FIELD study: A randomized, multicenter,
multinational, phase 3B, open-label, parallelgroup study of Fabrazyme® (agalsidase beta) in
Treatment-naïve male pediatric patients with
Fabry disease without severe symptoms,
02/06/2009 – 06/30/2014.

Lysosomal
Storage
1/1/2010 – 12/31/2010.

Developing Electrospray Mass Spectroscopy as
a Platform for the enzymatic detection of
Lysosomal Storage Diseases, 3/20/2006 –
3/20/2010.
AWARDS, GRANTS, HONORS
J. Lawrence Merritt, II, MD



Site Principal Investigator, Seattle. Longitudinal
Study of Urea Cycle Disorders. Urea Cycle
Disorders Consortium. Rare Diseases Clinical
Research Network. $75,000/ year. June 1, 2008
– July 31, 2009. Study chairs Mark Batshaw, MD
and Mendel Tuchman, M.D. Children’s National
Medical Center (CNMC), Washington, DC.
Disease
Errors
of
Registries,
Sihoun Hahn, MD, PhD
Longitudinal Study of Urea Cycle
Disorders. 9/30/09-7/31/11 Study PI Mark
Batshaw Children’s National Medical Center and
O’Malley Family Foundation.
Urea Cycle Disorders Training Grant. 9/30/097/31/11 To study the experiences and attitudes
of families with children with urea cycle
disorders identified through newborn screening
and the impact of this diagnosis and follow-up
care upon their quality of life.
6

Mitochondrial Research Guild Fund
Development Scientist (10/1/07-9/30/09)

Mitochondrial Research Guild Research Grant
for development of next generation sequencing
for mitochondrial disorders (2008-2009). PI:
Valera Vasta

Luminex/ACMGF Grant Award (2009-2010) for
promotion of safe and effective genetic testing
and services
for
McKean, KN, Formulas: Composition and Selection,
Assuring Pediatric Nutrition in the Hospital and
Community Conference, UW, Seattle, WA, June 24,
2009.
Cristine M Trahms, MS, RD, CD, FADA


On March 20th C Trahms received the Duncan
Award. This Seattle Children’s award is given
annually to acknowledge groups or individuals
who have demonstrated extraordinary positive
social or scientific impact on the well-being of
children with disabilities above and beyond
usual career expectations.
Leavitt, A. prepared a Power Point presentation at
the request of Mead Johnson Metabolics for the
Chinese Ministry of Health on PKU diagnosis,
management and the essential role of formula.
In February the University of Washington PKU
Clinic was renamed The Cristine M Trahms
Program for Phenylketonuria. This honor was
awarded on recognition of Cris’ extraordinary
vision, dedication, and service to the clinic.
Blake A, Hale S, Sniderman-King L, Hahn SH and
Merritt JL. Challenges in Early Identification and
Treatment of Children with Defects of Vitamin B12
and Folate Metabolism. ACMG annual meeting,
Tampa, Fl, March 25-29, 2009
Beth Ogata, MS, RD, CD

Katerina Sadilkova, Si Houn Hahn. Simultaneous
Determination of Alpha-aminoadipic Semialdehyde,
Piperideine-6-carboxylate and Pipecolic Acid in
Human Plasma by Liquid Chromatography-Mass
Spectrometry, ASMS Conference, Philadelphia,
2009
B Ogata received her specialty certification in
pediatric nutrition from the Commission on
Dietetic Registration
Anne Leavitt, MD

Sandra Kerfoot, Sihoun Hahn. Novel ATP7B peptide
quantitation in dried blood spots by LC-MS/MS for
newborn screening of Wilson disease. ASMS
Conference, Philadelphia, 2009
Leavitt
MD
received
her
subspecialty
certification in Developmental and behavioral
pediatrics
A Blake, M Glass, J Thompson, S Weiss, S Hale, L
Sniderman-King, M Raff, S Hahn, CR Scott, JL
Merritt, II. Update of Expanded Newborn Screening
(NBS) in Washington State on Unique Panel of 28
Conditions. International Congress of Inborn Errors
of Metabolism, San Diego, 2009
EXTRAMURAL PRESENTATIONS
Scott CR. Newborn Screening for Fabry Disease.
Fabry Registry Board of Adviser’s Meeting, Chicago,
IL, June 27, 2009.
JL Merritt, II, M Glass, J D Thompson, S Weiss, L
Sniderman-King, P Schubert, S Hale, M Edwards, K
McKean, M Raff, SH Hahn. Genetic testing for
abnormal newborn screening reveals more rare and
heterogeneous mutations in very long chain acylCoA dehydrogenase gene. International Congress of
Inborn Errors of Metabolism, San Diego, 2009
Scott CR. New technologies in the detection of
lysosomal storage disorders by tandem mass
spectrometry.
Newborn Screening-Lysosomal
Storage Disorders Workshop, Atlanta, GA,
November 16-17, 2009.
Scott CR. Molecular basis of Gaucher disease.
Lysosomal Storage Disorders Registries Regional
Investigator Meeting. San Francisco, CA, October
1-2, 2009.
J. Lawrence Merritt, II, Simon Horslen, Amy Blake,
Sihoun Hahn. Similar Clinical Presentations but
Different Outcome in Congenital Disorders of
Glycosylation
and
Mitochondrial
Depletion
Syndrome. International Congress of Inborn Errors
of Metabolism, San Diego, 2009
Hahn, S. Molecular Genetic Testing for Wilson
Disease. Wilson Disease Symposium at California
Pacific Medical Center, San Francisco, CA., May 2,
2009
L. Sniderman King, S. Hale, M. Murray, S. Horslen,
A. Weiss, L. Merritt, S. Hahn. Genotype-phenotype
correlation of two rarer Gaucher disease mutations.
International Congress of Inborn Errors of
Metabolism, San Diego, 2009
Hahn S, V Vasta, S B Ng, E H Turner, J Shendure.
Next
Generation
Sequence
Analysis
for
Mitochondrial Disorders, International Congress of
Inborn Errors of Metabolism, San Diego, CA.,
August 30, 2009
SH Hahn, K Sadilkova, S Kerfoot, S M Gospe,
Jr. Biomarker analysis for pyridoxine dependent
seizures and folinic acid responsive seizures.
International Congress of Inborn Errors of
Metabolism, San Diego, 2009
McKean, KN, Medical Nutrition Therapy for
Metabolic Disorders, Seattle Pacific University,
Seattle, WA, February 3, 2009.
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Edwards, MJ, Nutrition Support in a Propionic
Acidemia Neonate: A Case Study, Twelfth Abbott
Nutrition Metabolic Conference, Austin, TX, May 15,
2009
Sniderman King L, Hale S, Murray M, Horslen S,
Weiss A, Merritt JL II, Hahn S. Genotype-Phenotype
Correlations of Two Rarer Gaucher Disease
Mutations. WORLD Lysosomal Storage Diseases
meeting, Miami, FL. February 2010.
Northwest
Medical
Laboratory
Symposium.
American Society for Clinical Laboratory Science,
Region IX. The Diagnosis of Genetic Disease. Lisa
Sniderman-King, J. Lawrence Merritt, II, MD,
October 23, 2009.
PUBLICATIONS
Ruxandra Bachmann-Gagescu, J. Lawrence Merritt,
II, Si Houn Hahn. A cognitively normal PDH deficient
18 year-old male carrying the R263G mutation in the
PDHA1 gene. J Inherit Metab Dis. 2009 Jul 29
Katerina Sadilkova, Sidney M. Gospe, Jr., Si Houn
Hahn. Simultaneous determination of alphaaminoadipic
semialdehyde,
piperideine-6carboxylate and pipecolic acid by LC-MS/MS for
pyridoxine dependent-seizures and folinic acidresponsive
seizures.
J
Neurosci Methods.
2009:184(1):136-41
Valeria Vasta, Sarah B. Ng, Emily H. Turner, Jay
Shendure, Si Houn Hahn. Next Generation
Sequence Analysis for Mitochondrial Disorders.
Genome Medicine 2009 Oct 23;1(10):100.
Trahms CM, Nutrition Management of Inborn Errors
of Metabolism, American Association Pediatric
rd
Manual of Clinical Dietetics .3 edition (online), in
press 2009.
Ogata BN. Developmental Disabilities, ADA’s
Pediatric Nutrition Care Manual. Chicago, IL:
American Dietetic Association, in press 2009.
Merritt JL 2nd, Nguyen T, Daniels J, Matern D,
Schowalter DB. Biochemical Correction of Very
Long-Chain Acyl-CoA Dehydrogenase Deficiency
Following Adeno-associated Virus Gene Therapy.
Mol Ther. 2009 Mar;17(3):425-9. Epub 2009 Jan 20.
Hahn, Sihoun and Merritt, J Lawrence; Chapter 26,
Inherited Metabolic Disorders. Oxford American
Handbook of Pediatrics, Ed. F. Bruder Stapleton,
Oxford University Press; Oxford. 2009
8