Michael C Mareska1, Kristin K Adams, Joseph Muenzer, Frank Frerman, Thomas G Braun, James F Howard. 1. From the Departments of *Neurology and daggerPediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and the double daggerDepartment of Pediatrics, the University of Colorado School of Medicine, Denver, Colorado.
Abstract
INTRODUCTION: Glutaric acidemia type II (GA II) typically presents with profound metabolic acidosis, hypoketotic hypoglycemia, and mild dysmorphic features in newborns. Since its description, 11 patients with adult-onset GA II have been reported. CASE REPORT: A 23-year-old woman presented at 6 months gestation with preterm labor and weakness for 3 months. Her weakness worsened to the point of not being able to walk despite treatment with corticosteroids for presumed myositis. Biopsies of skeletal muscle revealed extensive lipid myopathy. Metabolic studies and urine organic acids were suggestive of a multiple acyl-CoA dehydrogenase deficiency. Immunoblot of skin fibroblasts demonstrated a deficiency of electron transfer flavoprotein-ubiquinone oxidoreductase. Treatment with carnitine, riboflavin, and diet restrictions improved muscle strength and decreased urine organic acids. CONCLUSION: This patient had the unique presentation of GA II with only myopathy. In adults with late-onset weakness, metabolic disorders should be considered in the differential diagnosis.
INTRODUCTION:Glutaric acidemia type II (GA II) typically presents with profound metabolic acidosis, hypoketotic hypoglycemia, and mild dysmorphic features in newborns. Since its description, 11 patients with adult-onset GA II have been reported. CASE REPORT: A 23-year-old woman presented at 6 months gestation with preterm labor and weakness for 3 months. Her weakness worsened to the point of not being able to walk despite treatment with corticosteroids for presumed myositis. Biopsies of skeletal muscle revealed extensive lipidmyopathy. Metabolic studies and urine organic acids were suggestive of a multiple acyl-CoA dehydrogenase deficiency. Immunoblot of skin fibroblasts demonstrated a deficiency of electron transfer flavoprotein-ubiquinone oxidoreductase. Treatment with carnitine, riboflavin, and diet restrictions improved muscle strength and decreased urine organic acids. CONCLUSION: This patient had the unique presentation of GA II with only myopathy. In adults with late-onset weakness, metabolic disorders should be considered in the differential diagnosis.
Authors: Amanat Ali; Fatmah Saeed Ali Almesmari; Nahid Al Dhahouri; Arwa Mohammad Saleh Ali; Mohammed Ahmed Ali Mohamed Ahmed Aldhanhani; Ranjit Vijayan; Amal Al Tenaiji; Aisha Al Shamsi; Jozef Hertecant; Fatma Al Jasmi Journal: Genes (Basel) Date: 2021-08-27 Impact factor: 4.096