Lysosomal glycogen storage disease with normal acid maltase

Moris J. Danon; Shin J. Oh; Salvatore DiMauro; Jose R. Manaligod; Abe Eastwood; Sakkubai Naidu; Louis H. Schliselfeld

doi:10.1212/wnl.31.1.51

Lysosomal glycogen storage disease with normal acid maltase

Moris J. Danon, Shin J. Oh, Salvatore DiMauro, Jose R. Manaligod, Abe Eastwood, Sakkubai Naidu, Louis H. Schliselfeld

Research output: Contribution to journal › Article › peer-review

273 Scopus citations

Abstract

Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.

Original language	English (US)
Pages (from-to)	51-57
Number of pages	7
Journal	Neurology
Volume	31
Issue number	1
DOIs	https://doi.org/10.1212/wnl.31.1.51
State	Published - Jan 1981
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/wnl.31.1.51

Cite this

@article{371f056e32854aefa1929a3567ed5ad3,

title = "Lysosomal glycogen storage disease with normal acid maltase",

abstract = "Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.",

author = "Danon, {Moris J.} and Oh, {Shin J.} and Salvatore DiMauro and Manaligod, {Jose R.} and Abe Eastwood and Sakkubai Naidu and Schliselfeld, {Louis H.}",

year = "1981",

month = jan,

doi = "10.1212/wnl.31.1.51",

language = "English (US)",

volume = "31",

pages = "51--57",

journal = "Neurology",

issn = "1526-632X",

publisher = "Lippincott Williams and Wilkins",

number = "1",

}

TY - JOUR

T1 - Lysosomal glycogen storage disease with normal acid maltase

AU - Danon, Moris J.

AU - Oh, Shin J.

AU - DiMauro, Salvatore

AU - Manaligod, Jose R.

AU - Eastwood, Abe

AU - Naidu, Sakkubai

AU - Schliselfeld, Louis H.

PY - 1981/1

Y1 - 1981/1

N2 - Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.

AB - Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.

UR - http://www.scopus.com/inward/record.url?scp=0019378026&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0019378026&partnerID=8YFLogxK

U2 - 10.1212/wnl.31.1.51

DO - 10.1212/wnl.31.1.51

M3 - Article

C2 - 6450334

AN - SCOPUS:0019378026

SN - 1526-632X

VL - 31

SP - 51

EP - 57

JO - Neurology

JF - Neurology

IS - 1

ER -

Lysosomal glycogen storage disease with normal acid maltase

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this