Adult Form of Acid Maltase Deficiency First Manifested as Repeated Hypercapnic Respiratory Failure-A Case Report

Abstract

Acid maltase deficiency (AMD) is a form of glycogen storage disease, which is an inherited autosomal recessive disease and rarely found in adults. It is characterized by a glycolysis enzyme (acid maltase) deficiency, mainly involving the glycogen-stored rich tissue, and may result in skeletal muscle weakness and respiratory failure. We report a 41-year-old man with adult onset AMD with an initial presentation of repeated hypercapnic respiratory failure and episodic proximal muscle weakness, without lung parenchymal or airway disease. Nerve conduction velocity and electromyography tests both indicated myopathy. Muscle biopsy finally confirmed the diagnosis of AMD. Hypercapnic respiratory failure is a syndrome commonly seen by pulmonary and critical care clinicians. Neuromuscular disorders, especially myopathies, should be highly suspected in a respiratory failure patient without lung disease.