Fabry disease: a case report

2021 ◽  
Vol 11 (2) ◽  
pp. 145-147
Author(s):  
Afroja Alam ◽  
Nadia Sharleen ◽  
Nusrat Jahan Prianka ◽  
Muhammad Raquib Rahman ◽  
Mahbuba Yesmin ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Lysosomal Enzyme ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Vascular Endothelial ◽  
Tissue Accumulation ◽  
Deficient Activity

Fabry disease is a rare X-linked recessive inborn error of metabolism due to deficient activity of the lysosomal enzyme, a-galactosidase A (a-Gal A). This results in the tissue accumulation of uncleaved glycosphingolipids within vascular endothelial lysosomes of various organs including skin, heart, kidneys and brain. We report a case of Fabry disease, in an 18-year-old boy, who presented with unilateral leg swelling and angiokeratoma corporis diffusum. Birdem Med J 2021; 11(2): 145-147

Ultrastructure of Fibroblast Cultures, Lymphocytes, and Liver in Mucopolysaccharidoses Types I, II, III, IV, and VI.

1970 ◽  
Vol 28 ◽  
pp. 204-205
Author(s):  
George Hug ◽  
William K. Schubert ◽  
Shirley Soukup
Keyword(s):  
Lysosomal Enzyme ◽  
Apparent Lack ◽  
Fibroblast Cultures ◽  
Lysosomal Diseases ◽  
Disease Specificity ◽  
Deficient Activity

McKusick subdivided the syndrome of mucopolysaccharidoses into six types according to clinical, roentenographic, and genetic criteria and to the kind of mucopolysaccharide(s) excreted in the urine (1). Deficient activity of a lysosomal enzyme, (β-galactosidase, has recently been reported in types I, II and III of mucopolysaccharidoses as well as in generalized gangliosidosis (2). This apparent lack of disease specificity makes the enzymatic deficiency difficult to interpret. Nevertheless, the involvement of a lysosomal enzyme tends to characterize these disorders as lysosomal diseases.

Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Congenital Hypothyroidism ◽  
Genetic Diseases ◽  
Female Child

scholarly journals Rapidly Progressive Lung Cysts and Pleural Effusion: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Diana Olsen ◽  
Charlene Molloy ◽  
P. S. Sriram
Keyword(s):  
Endothelial Cells ◽  
Case Report ◽  
Pleural Effusion ◽  
Vascular Endothelial Cells ◽  
Vascular Endothelial ◽  
Review Of The Literature ◽  
Pleural Effusions ◽  
Lung Cysts ◽  
Pulmonary Cysts ◽  
Thin Walled

Angiosarcoma is a rare but highly malignant tumor arising from vascular endothelial cells. Angiosarcoma commonly arises from the heart, liver, breast, and skin including the scalp. Angiosarcoma metastasizing to the lungs can present as either pneumothorax, hemothorax, or pleural effusions. They can rarely present as rapidly enlarging thin-walled pulmonary cysts. A review of the literature is included.

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism

2019 ◽  
Vol 56 (1) ◽  
pp. e5-e8 ◽  
Author(s):  
Erin E. Bennett ◽  
Kevin Hummel ◽  
Andrew G. Smith ◽  
Nicola Longo
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Acute Presentation

scholarly journals FABRY DISEASE, FAMILY CASE REPORT

2019 ◽  
Author(s):  
LIZETH CHAPARRO DEL PORTILLO ◽  
JÚLIA YONESHIGUE LARANJA DE OLIVEIRA ◽  
HANY KELLY ARAUJO CRUZ ◽  
BRUNO BORDALO CORRÊA ◽  
VIVIAN MABEL ORSI DORADO ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Family Case ◽  
Disease Family
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