Scholars@Duke
Rebecca Koch

Rebecca Koch

Assistant Professor of Pediatrics
Pediatrics, Medical Genetics
rebecca.koch@duke.edu
DUMC Box 103857, 905 LaSalle St. GSRB1, Durham, NC 27710

Selected Publications

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

Journal Article Genet Med · December 2025 PURPOSE: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11). METHODS: Medical records were reviewed fo ... Full text Link to item Cite

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Journal Article Mol Genet Metab · December 2025 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disease caused by the deficiency of the glycogen branching enzyme encoded by GBE1. GSD IV can present with variable age of onset and severity of disease processes involving liver, cent ... Full text Link to item Cite

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

Journal Article Npj Genomic Medicine · December 1, 2025 Muscle phosphorylase kinase deficiency results from X-linked pathogenic variants in PHKA1, leading to glycogen storage disease (GSD) type IXα1 (also known as GSD IXd). As part of an international collaboration, we describe 14 previously unreported cases (1 ... Full text Cite

Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.

Journal Article Genet Med · December 2025 PURPOSE: Health care and clinical trials for persons with liver glycogen storage diseases (GSD) can be improved by a consensus-based standard set of person-centered health outcomes, including patient-reported outcome measures. METHODS: Persons with GSD (n ... Full text Link to item Cite

Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.

Journal Article Sci Adv · November 14, 2025 Glycogen storage disease (GSD) type IX γ2 is a rare inborn error of metabolism where a defect in glycogenolysis leads to the inability to break down glycogen in the liver. Patients with GSD IX γ2 develop hypoglycemia and advanced liver disease, placing the ... Full text Link to item Cite

Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.

Journal Article JIMD Rep · November 2025 Pompe disease (PD) is an autosomal recessive disorder caused by pathogenic variants in GAA, resulting in acid alpha-glucosidase (GAA) deficiency and lysosomal glycogen accumulation. PD is classified into infantile-onset (IOPD), characterized by cardiomyopa ... Full text Link to item Cite

An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines.

Journal Article Nutrients · June 1, 2025 Newborn screening (NBS) is leading to the diagnosis of a large number of children with late-onset Pompe disease (LOPD), yet many remain asymptomatic until later years. A high-protein, low-carbohydrate diet is recommended for adults with LOPD. Nutrition gui ... Full text Link to item Cite

State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases.

Journal Article J Inherit Metab Dis · May 2025 Continuous glucose monitoring (CGM) is increasingly used although not officially registered for the management of people living with liver glycogen storage diseases (GSDs). The aims of this study were twofold: (a) to investigate the current experiences of ... Full text Link to item Cite

Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.

Journal Article Mol Genet Metab Rep · December 2024 Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left untreat ... Full text Link to item Cite

Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.

Journal Article Mol Genet Metab · December 2024 Hepatic glycogen storage disease type IX γ2 (GSD IX γ2) is a severe, liver-specific subtype of GSD IX. While all patients with hepatic GSD IX present with similar symptoms, over 95 % of patients with GSD IX γ2 progress to liver fibrosis and cirrhosis. Desp ... Full text Link to item Cite

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.

Journal Article JIMD Rep · September 2024 Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β-glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical presentations can be ... Full text Link to item Cite

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Journal Article JCI Insight · May 14, 2024 BackgroundGlycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally be ... Full text Link to item Cite

Gene therapy for glycogen storage diseases.

Journal Article J Inherit Metab Dis · January 2024 Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy ... Full text Open Access Link to item Cite

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy.

Journal Article JIMD Rep · September 2023 Glycogen storage disease Ia (GSD Ia), also known as von Gierke disease, is caused by pathogenic variants in the G6PC1 gene (OMIM 232200) which encodes glucose-6-phosphatase. Deficiency of glucose-6-phosphatase impairs the processes of gluconeogenesis and g ... Full text Link to item Cite

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Journal Article Mol Genet Metab · March 2023 Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads t ... Full text Link to item Cite

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.

Journal Article Front Genet · 2023 Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1. Advances in the understanding of the natural history of ... Full text Link to item Cite

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Journal Article Front Genet · 2022 Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent t ... Full text Link to item Cite

Quantitative trait mapping in Diversity Outbred mice identifies novel genomic regions associated with the hepatic glutathione redox system.

Journal Article Redox Biol · October 2021 The tripeptide glutathione (GSH) is instrumental to antioxidant protection and xenobiotic metabolism, and the ratio of its reduced and oxidized forms (GSH/GSSG) indicates the cellular redox environment and maintains key aspects of cellular signaling. Disru ... Full text Link to item Cite

Genetic mapping of renal glutathione suggests a novel regulatory locus on the murine X chromosome and overlap with hepatic glutathione regulation.

Journal Article Free Radic Biol Med · October 2021 Glutathione (GSH) is a critical cellular antioxidant that protects against byproducts of aerobic metabolism and other reactive electrophiles to prevent oxidative stress and cell death. Proper maintenance of its reduced form, GSH, in excess of its oxidized ... Full text Link to item Cite

The effects of different doses of curcumin compound on growth performance, antioxidant status, and gut health of broiler chickens challenged with Eimeria species.

Journal Article Poult Sci · November 2020 Supplementation of broiler diets with feed additives such as chemotherapeutic drugs and antibiotics has side effects, meat residues, and antibiotics resistance complications. Plant-derived natural compounds could be safe and easy substitutes for chemical a ... Full text Link to item Cite

The effects of L-Arginine supplementation on growth performance and intestinal health of broiler chickens challenged with Eimeria spp.

Journal Article Poult Sci · November 2020 This study evaluated the effects of varying levels of L-arginine (Arg) on performance and intestinal health of broilers challenged with Eimeria. Cobb 500 male chicks (n = 720) were randomly distributed in a 5 × 2 factorial arrangement (6 replicates/12 bird ... Full text Link to item Cite

Effects of Inorganic Zn and Cu Supplementation on Gut Health in Broiler Chickens Challenged With Eimeria spp.

Journal Article Front Vet Sci · 2020 An experiment was conducted to evaluate the effect of different levels of inorganic copper and zinc on growth performance, intestinal permeability, intestinal lesion scores, oocyst shedding, antioxidant properties and bone quality in broilers challenged wi ... Full text Link to item Cite

Impact of Supplementary Amino Acids, Micronutrients, and Overall Diet on Glutathione Homeostasis.

Journal Article Nutrients · May 11, 2019 Glutathione (GSH) is a critical endogenous antioxidant found in all eukaryotic cells. Higher GSH concentrations protect against cellular damage, tissue degeneration, and disease progression in various models, so there is considerable interest in developing ... Full text Link to item Cite

Heritability of the aged glutathione phenotype is dependent on tissue of origin.

Journal Article Mamm Genome · October 2018 Glutathione is a ubiquitous antioxidant that protects cells against reactive oxygen species and other chemical stressors. Despite its functional importance, the impact of genetics on the glutathione system has yet to be fully appreciated. Here, we investig ... Full text Link to item Cite