Anderson-Fabry Disease in Females

AbstractAnderson-Fabry disease (AFD) is the second most common lysosomal storage disease. This is an X-linked disorder due to lysosomal enzyme deficiency of a-galac-tosidasae A, that results in accumulation of globotriaosyl-ceramide in various tissues leading to organ damage, and resulting in a variety of cardiovascular, renal, neural, der-matological, psychological signs and symptoms. Despite being X-linked, heterozygous females can suffer from symptoms equally severe as male hemizygotes. This paper presents signs, symptoms, specific diagnostic approach and treatment possibilities of AFD in female patients.

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Lysosomal Storage Disease

Journal of Nepal Medical Association ◽

10.31729/jnma.193 ◽

2009 ◽

Vol 48 (175) ◽

Cited By ~ 1

Author(s):

Binod Khatiwada ◽

A Pokharel

Keyword(s):

Lysosomal Storage Disease ◽

Lysosomal Enzyme ◽

Enzyme Assay ◽

Storage Disease ◽

Lysosomal Storage ◽

Gm1 Gangliosidosis ◽

Poor Vision ◽

Gradual Onset ◽

History Of ◽

Beta Galactosidase

We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula. Onperforming lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicatesthat the child is affected by lysosomal storage disease most likely GM1 gangliosidosis. The diagnosisis important because the disease is rare and it may be missed as the symptoms are similar to otherneurological conditions and the diagnosis can help with future conception.Key Words: beta-galactosidase, GM1 gangliosidosis, lysosomal storage disease

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Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family

Vojnosanitetski pregled ◽

10.2298/vsp1207620s ◽

2012 ◽

Vol 69 (7) ◽

pp. 620-622

Author(s):

Dejan Sakac ◽

Goran Koracevic ◽

Tatjana Pavlica ◽

Slobodan Sekulic

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Fabry Disease ◽

Storage Disease ◽

Cerebrovascular Disorders ◽

Organ Damage ◽

Lysosomal Storage ◽

Intracellular Accumulation ◽

Enzyme Replacement ◽

Possible Cause

Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues. This can cause skin and ocular lessions, progressive renal, cardiac or cerebrovascular disorders. If a person in a family has Fabry disease, other family members including even extended relatives, may also be at risk. Case report. We presented three cases pointed out various manifestation of Fabry disease, that illustrate a possible cause for otherwise unexplained cardiac hypertrophy and various rhythm and conduction abnormalities. Conclusion. Although most symptoms begin in childhood, various manifestations often lead to misdiagnosis and clinical diagnosis is frequently delayed for many years, even decades. Enzyme replacement therapy has become available, pointing out the importance of early diagnosis so that treatment can be initiated before irreversible organ damage.

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Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage disease

Biochemical Journal ◽

10.1042/bj1280069 ◽

1972 ◽

Vol 128 (1) ◽

pp. 69-78 ◽

Cited By ~ 97

Author(s):

J. D. Hocking ◽

R. D. Jolly ◽

R. D. Batt

Keyword(s):

Lysosomal Storage Disease ◽

Lysosomal Enzyme ◽

Human Disease ◽

Storage Disease ◽

Lysosomal Storage ◽

Angus Cattle ◽

Partial Deficiency

A disease of Angus cattle previously known as pseudolipidosis has been shown to be an inherited lysosomal storage disease, in which an oligosaccharide containing mannose and glucosamine is the storage substance. Diseased animals have a near-absolute deficiency of the lysosomal enzyme, α-mannosidase, whereas heterozygotes have a partial deficiency of this enzyme. The condition is analogous to the human disease known as mannosidosis.

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Faculty Opinions recommendation of Oncogenic effects of germline variants in lysosomal storage disease genes.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.736262531.793563285 ◽

2019 ◽

Author(s):

Fowzan S Alkuraya

Keyword(s):

Lysosomal Storage Disease ◽

Storage Disease ◽

Disease Genes ◽

Lysosomal Storage ◽

Germline Variants

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Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease?

Nuklearmedizin ◽

10.3413/nukmed-0142 ◽

2008 ◽

Vol 47 (06) ◽

pp. 239-247 ◽

Cited By ~ 8

Author(s):

S. Kohlfürst ◽

H. J. Gallowitsch ◽

E. Kresnik ◽

P. Lind ◽

A. B. Mehta ◽

...

Keyword(s):

Bone Marrow ◽

Lysosomal Storage Disease ◽

Gaucher Disease ◽

Storage Disease ◽

Lysosomal Storage ◽

Scintigraphic Imaging ◽

Imaging Methods ◽

X Ray ◽

Deficient Activity

SummaryGaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme β-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods.

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