Scholars@Duke
Areeg Hassan El-Gharbawy

Areeg Hassan El-Gharbawy

Associate Professor of Pediatrics
Pediatrics, Medical Genetics
areeg.el-gharbawy@duke.edu
GSRB1, 4th Floor, 905 S. Lasa, Box 103856, Durham, NC 27710

Selected Publications

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

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Journal Article Mol Genet Metab Rep · June 2022 INTRODUCTION: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of t ... Full text Open Access Link to item Cite

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Journal Article Mol Genet Metab Rep · December 2021 INTRODUCTION: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients ... Full text Open Access Link to item Cite

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Journal Article Genet Med · April 2019 PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is c ... Full text Link to item Cite

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Journal Article J Inherit Metab Dis · November 2017 BACKGROUND: Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages over traditional medium-chain triglyceride (MCT) treatment of long-chain fatty acid oxidation diso ... Full text Link to item Cite

Menorrhagia in patients with type I glycogen storage disease.

Journal Article Obstet Gynecol · December 2013 OBJECTIVE: To evaluate menorrhagia in a cohort of women with glycogen storage disease type I because it appears to be an under-recognized problem in females of reproductive age. METHODS: A retrospective chart review was performed on 13 menstruating patient ... Full text Link to item Cite

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

Journal Article Mol Genet Metab · June 2013 Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 famili ... Full text Link to item Cite

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

Journal Article Mol Genet Metab · August 2011 PURPOSE: Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determin ... Full text Link to item Cite

Metabolic myopathies: clinical features and diagnostic approach.

Journal Article Rheum Dis Clin North Am · May 2011 The rheumatologist is frequently called on to evaluate patients with complaints of myalgia, muscle cramps, and fatigue. The evaluation of these patients presents a diagnostic challenge given the nonspecific and intermittent nature of their complaints, ofte ... Full text Link to item Cite

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

Journal Article Mol Genet Metab · February 2011 A male child with X-linked pyruvate dehydrogenase deficiency presented with severe neonatal lactic acidosis. Poor compliance following initiation of the ketogenic diet justified modification to a less restrictive form which improved compliance. One year af ... Full text Link to item Cite

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.

Journal Article Mol Genet Metab · 2011 PURPOSE: Pompe disease (PD) is a progressive metabolic myopathy for which the only available treatment is alglucosidase alfa (Myozyme®). Enzyme replacement therapy (ERT) has improved ventilator-free survival, and cardiac and motor functions in patients wit ... Full text Link to item Cite

Glycogen storage disease type III diagnosis and management guidelines.

Journal Article Genet Med · July 2010 PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra ... Full text Link to item Cite

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

Journal Article Am J Med Genet A · January 2010 Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form of CCD is characterized by delayed clos ... Full text Link to item Cite

Serum brain-derived neurotrophic factor concentrations in lean and overweight children and adolescents.

Journal Article J Clin Endocrinol Metab · September 2006 CONTEXT: Brain-derived neurotrophic factor (BDNF) and its receptor appear to be important components of the leptin-signaling cascade involved in energy homeostasis, and mice with BDNF or TrkB gene haploinsufficiency have excessive adiposity. Little is know ... Full text Link to item Cite

Hyperinsulinism/Hyperammonemia Syndrome: a synopsis.

Journal Article Mol Genet Metab · February 2005 Full text Link to item Cite

Gender-specific correlates of leptin with hypertension-related phenotypes in African Americans.

Journal Article Am J Hypertens · November 2002 Leptin may be a link in the relationship of obesity with hypertension. We evaluated associations of leptin with blood pressure (BP) in 54 normotensive and 114 hypertensive African American individuals. Plasma leptin was higher (P <.03) in hypertensive wome ... Full text Link to item Cite

Predictors of target organ damage in hypertensive blacks and whites.

Journal Article Hypertension · October 2001 The purpose of this study was to evaluate the association of the insulin resistance syndrome with both blood pressure and target organ damage in blacks and whites with essential hypertension. Eighty-two black and 63 white French Canadian patients were stud ... Full text Link to item Cite

Arterial pressure, left ventricular mass, and aldosterone in essential hypertension.

Journal Article Hypertension · March 2001 The purpose of the present study was to evaluate the relationship of aldosterone to blood pressure and left ventricular size in black American (n=109) and white French Canadian (n=73) patients with essential hypertension. Measurements were obtained with pa ... Full text Link to item Cite

Correlates of insulin resistance in hypertensive African Americans.

Conference JOURNAL OF INVESTIGATIVE MEDICINE · September 1, 2000 Link to item Cite