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Adult-Onset Acid Maltase Deficiency - CHEST. Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially had progressive muscular weakness, exertional Cited by:

Apr 01,  · The adult onset form of acid maltase deficiency (Type IIb) clinically affects only skeletal muscle. Proximal weakness is more severe in legs than arms and involvement of respiratory muscles Cited by: Adult-Onset Acid Maltase Deficiency* Case Report of an Adult with Severe Respiratory Difficulty Noah I. Lightman, M.D., •• and Robert T. Schooley, M.D.t Pompe's disease (acid maltase deficiency) classic:ally af. fects infants and cbDdren, with a few spondic cases oc­ curring in adults. An adult .

Aug 01,  · In , Hudgson et al 2 reported a case of acid maltase deficiency presenting with weakness in adult life. Reports by Engel 3 in and by Engel et al 4 in provided details on seven patients with adult-onset acid maltase deficiency proven by muscle biopsy. The onset Cited by: Acid maltase deficiency results from a defect in the gene for the acid maltase enzyme (also known as acid alphaglu cosidase) that prevents the breakdown of glycogen (stored sugar). See Causes/Inheritance for more. What is the progression of acid maltase deficiency? This disease has its onset .

Systemic Metabolic Abnormalities in Adult-onset Acid Maltase Deficiency Beyond Muscle Glycogen Accumulation Juan M. Pascual, MD, PhD; Charles R. Roe, MD Importance: The physiological relevance of acid malt-ase (acid Cited by: Mar 04,  · Adult-onset Pompe disease (acid maltase deficiency, glycogen storage disease type II) should be considered in the differential diagnosis in the adult patient presenting with slowly progressive selective lower extremity weakness Cited by: 7.

Aug 04,  · Acid maltase deficiency (AMD) is an autosomal recessive disease characterized by an excessive accumulation of glycogen within lysosome-derived vacuoles in nearly all types of . Abstract We established muscle-tissue cultures from biopsy of a patient with adult-onset acid maltase deficiency. Morphologically and biochemically, the newly grown fibers of the cultured muscle sh.