Adult onset acid maltase deficiency

Objective & Hypothesis:Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA).

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Key Findings & Data:Three different clinical forms as infantile, juvenile and adult form have been descibed.

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Conclusion & Impact:The neurological and histopathological findings of this case are discussed.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Glikojen depo hastalığı tip II · Glukan 1 · 4-alfa-glukosidaz

Abstract

Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Three different clinical forms as infantile, juvenile and adult form have been descibed. A thirty-year-old-female with adult form acid maltase deficiency is presented. Although the leucosyt acid maltase level was zero in our patient the symptoms were restricted to skeletal muscle. The neurological and histopathological findings of this case are discussed.

Özet

Glikojen depo hastalığı tip II (GDHII, Pompe hastalığı), lizozomal alfa-glukosidaz eksikliğine bağlı otosomal resesif bir, hastalıktır, infantil, juvenil ve adult olmak üzere üç farklı form tanımlanmıştır. Asit maltaz eksikliği olan otuz yaşında bayan hasta sunulmuştur. Lökosit asit maltaz seviyesi sıfır olan hastamızda semptomlar iskelet kasına sınırlıydı. Bu olgu nörolojik ve histopatolojik özellikleri ile tartışılmıştır.

Keywords

Glikojen depo hastalığı tip II Glukan 1 4-alfa-glukosidaz Erişkin Doğumsal kalıtsal ve yenidoğan hastalıkları ve anormallikleri Lizozomal depo hastalıkları sinir sistemi Glycogen Storage Disease Type II Glucan 1 4-alpha-Glucosidase Adult Congenital Hereditary and Neonatal Diseases and Abnormalities Lysosomal Storage Diseases Nervous System

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Cite This Article

KOÇ, A. F., ZORLUDEMİR, S., SARICA, Y. (2003). Adult onset acid maltase deficiency. Gülhane Tıp Dergisi, Cilt: 45 - Sayı: 3, 277–280. https://ajindex.com/articles/225737

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