1972
DOI: 10.1126/science.176.4033.426
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Deficiency of α-L-Fucosidase

Abstract: A new form of alpha-L-fucosidase deficiency has been found in a 20-year-old severely retarded male. Additional signs include angiokeratoma corporis diffusum and anhydrosis. The skin lesion is due to an accumulation of residual bodies, presumably containing oligosaccharides and glycoproteins, in endothelial cells and fibrocytes. The enzyme activity in blood relatives indicates that the disease is inherited as a simple autosomal recessive trait that segregates according to Mendelian principles. Because the enzym… Show more

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Cited by 70 publications
(17 citation statements)
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“…No typical angiokeratoma lesions could be discovered as reported in the milder phenotype or in Fabry's disease. As expected, the involvement of the endothelial cells (Patel et al, 1972) was striking. We were able to confirm the vacuolisation of the eccrine sweat glands (Kousseff et al, 1976), and to find lamellar inclusions in Schwann cells (Libert et al, 1977a).…”
Section: Mucolipidosessupporting
confidence: 83%
“…No typical angiokeratoma lesions could be discovered as reported in the milder phenotype or in Fabry's disease. As expected, the involvement of the endothelial cells (Patel et al, 1972) was striking. We were able to confirm the vacuolisation of the eccrine sweat glands (Kousseff et al, 1976), and to find lamellar inclusions in Schwann cells (Libert et al, 1977a).…”
Section: Mucolipidosessupporting
confidence: 83%
“…Although the presence of angiokeratoma corporis diffusum offers an easy clue to the diagnosis [Patel et al, 1972;Epinette et al, 19731, it is not pathognomonic for fucosidosis. Angiokeratoma have been reported in a number of disorders.…”
Section: Symptomsmentioning
confidence: 98%
“…Considerable clinical variability has been reported: a minority of patients, including the original patients, have rapidly progressive neurologic deterioration leading to decerebration and death before age 5 years Matsuda et al, 197313;Larbrisseau et al, 1978, 19791. The majority of fucosidosis patients have slower neurologic deterioration with survival into the second or third decade [Patel et al, 1972;Kousseff et al, 1976;. The severe form of fucosidosis is referred to as type I and the less severe form as type 11.…”
Section: Introductionmentioning
confidence: 98%
“…Slow progressive mental and motor retardation distinguishes this form of the disease from the more severe type-l patients . After three to four years angiokeratomas develop on the scrotum and lower extremities (27,188,189). Survival into adulthood is common.…”
Section: Clinical Phenotypesmentioning
confidence: 99%