Pompe Disease (Generalized Glycogenosis)
General: Absence of acid maltase; ty 646e41g pe II glycogen storage disease with decreased acid maltase resulting in elevated levels of lysosomal glycogen; inheritance is autosomal recessive.
Ocular: Cortical blindness.
Clinical: Anorexia; retardation of growth; cyanosis; dyspnea; convulsions; death; enlarged tongue; large heart; hypotonicity.
Goebel HH, et al. Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease). Ophthalmologica 1978; 176:61-68.
Libert J, et al. Ocular ultrastructural study in a fetus with type II glycogenosis. Br J Ophthalmol I977; 61:476-482.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Pokorny KS, et al. Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease). Invest Ophthalmol 1982; 22:25-31.
Verity MA. Infantile Pompe's disease, lipid storage, and partial carnitine deficiency. Muscle Nerve 1991; 14:435-440.
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