Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Abstract

Lysosomal glycogen storage disease with normal acid maltase (Danon) is caused by primary lysosome-associated membrane protein-2 (LAMP-2) deficiency. Typically, the disease begins after the first decade; however, two infantile patients had similar histologic features. The infantile disorder is distinct from Danon disease, because, in both infants, LAMP-2 protein is present in skeletal muscle. Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy.

• Authors: A Yamamoto, Y Morisawa, A Verloes, N Murakami, M Hirano, I Nonaka, I Nishino
• Journal: Neurology (Neurology) Vol. 57 Issue 5 Pg. 903-5 (Sep 11 2001) ISSN: 0028-3878 [Print] United States
• PMID: 11552028 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antigens, CD
• Lysosome-Associated Membrane Glycoproteins
• Membrane Glycoproteins

Topics

• Antigens, CD (metabolism)
• Child, Preschool
• Diagnosis, Differential
• Female
• Humans
• Infant, Newborn
• Lysosomal Storage Diseases (metabolism, pathology)
• Lysosome-Associated Membrane Glycoproteins
• Male
• Membrane Glycoproteins (metabolism)
• Muscle, Skeletal (metabolism, pathology)
• Muscular Diseases (metabolism, pathology)