Lysosomal glycogen storage disease with normal acid maltase

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

doi:10.1212/wnl.31.1.51

Cited by 363 publications

(232 citation statements)

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“…A dystrophin gene (DMD) mutation was found in the larger family; a DMD mutation was not detected in XLCM-2, which consisted of a mildly affected mother who had three sons manifesting a dilated cardiomyopathy phenotype (Ortiz-Lopez et al 1997) Mutations in another X-linked gene, lysosome-associated membrane protein-2 (LAMP-2), are an increasingly recognized cause of X-linked cardiomyopathy. Also known as Danon disease, the original phenotype description included a triad of non-obstructive hypertrophic cardiomyopathy (HCM), skeletal myopathy, and mental retardation in males (Danon et al 1981). Histological skeletal muscle findings mimic those of Pompe disease, and the cardiomyopathy is most commonly described as hypertrophic in males.…”

Section: Introductionmentioning

confidence: 99%

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Taylor¹,

Ku²,

Slavov³

et al. 2007

J Hum Genet

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X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. Here we report long-term follow-up of the second family (XLCM-2), for which a DMD mutation was never found. Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease. The broad phenotype in this family included dilated and hypertrophic cardiomyopathy, cardiac pre-excitation, skeletal myopathy with high serum creatine kinase, cognitive impairment (in males), and a pigmentary retinopathy in affected females. Cardiac biopsy specimens showed extensive vacuolar changes in an affected adult male. Remarkably, the skeletal muscle biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. We conclude that XLCM may be the presenting sign of Danon disease and, in the presence of a familial history of HCM, pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy should prompt LAMP-2 clinical testing. Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease.

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Section: Introductionmentioning

confidence: 99%

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Taylor¹,

Ku²,

Slavov³

et al. 2007

J Hum Genet

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“…On the other hand, in some patients with adult form neutral a-glucosidase activity was dificient in the heart or muscle (DiMauro et al 1978;Shanske et al 1984). In addition, it has been reported that the coexistence of infantile and adult forms in the same family (Busch et al 1979;Loonen et al 1981) and lysosomal glycogen storage disease (glycogenosis type II) without acid aglucosidase deficiency (Danon et al 1981;Riggs et al 1983). At the present time, the correlation between variability of clinical phenotypes and biochemical abnormalities is still obscure.…”

Section: Discussionmentioning

confidence: 99%

Partial characterization of leucocyte .ALPHA.-glucosidase in late onset glycogenosis type II.

Kohriyama

Kuriyama

Hiwatari

et al. 1989

Tohoku J. Exp. Med.

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We describe partial characterization and properties of leucocyte a-glucosidase from a patient with clinical features intermediate of juvenile and adult onset forms of glycogenosis type II. Acid and neutral a-glucosidase activities toward 4-methylumbelliferyl glucopyranoside as substrate were studied in total leucocytes, and separately in lymphocytes and granulocytes. Lymphocytes, which showed markedly reduced activities of acid a-glucosidase in the patient, are the most reliable peripheral blood cells for the diagnosis of glycogenosis type II. Moreover, the ratio of acid/ neutral a-glucosidase activities, especially in lymphocytes, is a useful parameter for the diagnosis. In lymphocytes, the Km values of both acid and neutral a-glucosidases were essentially the same between the patient and normal controls ; the Vmax value of acid a-glucosidase from the patient was markedly reduced, and the Vmax value of neutral a-glucosidase from the patient was reduced by 36% as compared with that from normal controls. Heat-inactivation experiments revealed that acid a-glucosidase activities of lymphocytes were relatively heatstable, while both acid and neutral a-glucosidases of granulocytes were heat-labile. No differences in these properties, however, could be detected between the patient and normal controls.Pompe's disease ; glycogenosis type II; aglucosidase ; leucocytes ; lymphocytes Glycogenosis type II, a condition resulting from the deficiency of lysosomal acid a-glucosidase, is classified into two forms : a generalized form and a muscular form. In the generalized form, patients manifest clinical symptoms of generalized muscle weakness, cardiomegaly, and hepatomegaly in the first months of life and die within their first or second year (infantile form). Many cases show

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“…Danon disease (OMIM #300257) is a rare X-linked disorder originally described as a Pompe disease phenocopy with normal acid maltase activity (Danon et al 1981). The cardinal features of this condition are hypertrophic cardiomyopathy, preexcitation and tachyarrhythmias, and skeletal myopathy, with some affected persons manifesting intellectual disability and/or pigmentary retinopathy.…”

Section: Introductionmentioning

confidence: 99%

“…The disease process is characterized pathologically by progressive interstitial fibrosis, muscle fiber hypertrophy, periodic-acid-Schiff-positive sarcoplasmic vacuolation, and myofibrillar disarray (Murakami et al 1995;Sugie et al 2005). Affected tissues accumulate abnormal autophagosomes containing bulk cytoplasmic debris and glycogen, bounded by a membrane expressing peculiar sarcolemma-like features (e.g., dystrophin and sarcoglycan staining) (Danon et al 1981;Sugie et al 2005;Tanaka et al 2000;González-Polo et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Danon Disease Due to a Novel LAMP2 Microduplication

et al. 2013

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Danon disease is a rare X-linked disorder comprising hypertrophic cardiomyopathy, skeletal myopathy, intellectual disability, and retinopathy; mutations of the lysosome-associated membrane protein gene LAMP2 are responsible. Most affected persons exhibit "private" point mutations; small locus rearrangements have recently been reported in four cases. Here, we describe the clinical, pathologic, and molecular features of a male proband and his affected mother with Danon disease and a small LAMP2 microduplication. The proband presented at age 12 years with exercise intolerance, hypertrophic cardiomyopathy, and increased creatine kinase. Endomyocardial biopsy findings were nonspecific, showing myocyte hypertrophy and reactive mitochondrial changes. Quadriceps muscle biopsy demonstrated the characteristic autophagic vacuoles with sarcolemma-like features. LAMP2 tissue immunostaining was absent; however, LAMP2 sequencing was normal.

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Lysosomal glycogen storage disease with normal acid maltase

Cited by 363 publications

References 0 publications

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Partial characterization of leucocyte .ALPHA.-glucosidase in late onset glycogenosis type II.

Danon Disease Due to a Novel LAMP2 Microduplication

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