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Fabry’s disease

Fabry s disease a-Gaiactosidase Cer—Gic—Gai-i-Gai Giobotriaosyiceramide Skin rash, kidney failure (full symptoms only in males X-linked recessive). [Pg.203]

Nineteen women underwent amniocentesis for the determination of fetal sex. Several different X-llnked abnormalities constituted the Indications for this procedure, and these Included hemophilia A, hemophilia B, Duchenne muscular dystrophy, optic albinism, X-llnked mental retardation, the Lesch-Nyhan syndrome (due to dlflclency of hypoxanthlne-guanlne phosphorlbosyltransferase, and Fabry s disease (due to deficiency of an a-galact-osldase). Fourteen of the fetuses were male. Including one which turned out to be a set of twins, and most of the male pregnancies were terminated. The sex determination being carried out for Fabry s disease Is of particular Interest, since In this case It was desired to find out whether the fetus was a female. [Pg.86]

Congenital, familial, and metabolic disorders (e.g., congenital obstructive uropathy, Fabry s disease, medullary cystic disease, and nephrolithiasis)... [Pg.831]

Fabry s disease An x-linked recessive lipid storage disease with an accumulation of the glycosphingolipid. [Pg.1566]

Primary lysosomal hydrolase defects. Two-thirds of the lysosomal storage diseases involve defects in genes that code for acid hydrolases. Table 41-2 lists 29 defects that have been defined so far. They have an autosomal recessive mode of inheritance, except for Hunter s syndrome and Fabry s disease, where the mode is X-linked recessive. The defective genes have been identified and mutations have been defined for nearly all. The nervous system is involved in most. Many of the disorders show a wide range of clinical severity, which may range from death in early childhood to a moderate disability in adulthood. [Pg.685]

Fabry s disease a-galactosidase (trihexoceramidase) Trihexosylceramide (gal-gal-glc-cer digalactosylceramide)... [Pg.686]

Patients with fucosidosis present with hypotonia, progressive mental retardation and motor deficits and also angiokeratomas in the skin, which resemble those in Fabry s disease. Mannosidosis patients show dysmorphic features, hepatosplenomegaly and mental retardation. [Pg.687]

Gaucher s disease type I Fabry s disease Hurler s disease Pompe s disease Hurler s syndrome... [Pg.692]

Fabrazyme (rha-Galactosidase, produced in CHO cells) Genz5me Fabry s disease (a-galactosidase A deficiency) 2001 (EU)... [Pg.507]

Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W (1973) Fabry s disease enzymatic diagnosis of hemizygotes and heterozygotes. J Lab Clin Med 81 157 171... [Pg.375]

Mayes JS, Scheerer JB, Sifers RN, Donaldson ML (1981) Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry s disease. Clin Chim Acta 112 247-251... [Pg.376]

Lysosomal storage abnormalities, such as glycogenosis (Pompe s disease). Tay-Sachs, Krabbe s. Gaucher s, and Fabry s diseases, as well as melachromatic leukodystrophy, aspariylgiycosaminuria, and Niemann-Pick disease. Also included in this category are mucopolysaccharidoses. Hunter s, Scheie s, and Hurler s syndromes. [Pg.716]

Fabry s disease was described independently in 1898 by J. Fabry and W. Anderson. Characteristic symptoms are... [Pg.451]

The normal mammalian triglycosyl ceramide which accumulates in Fabry s disease (due to the genetic deficiency of an a-galactosidase) has the structure ... [Pg.91]

See other pages where Fabry’s disease is mentioned: [Pg.581]    [Pg.616]    [Pg.82]    [Pg.624]    [Pg.687]    [Pg.693]    [Pg.694]    [Pg.583]    [Pg.618]    [Pg.313]    [Pg.46]    [Pg.46]    [Pg.79]    [Pg.389]    [Pg.395]    [Pg.279]    [Pg.280]    [Pg.280]    [Pg.354]    [Pg.356]    [Pg.574]    [Pg.574]    [Pg.452]    [Pg.307]    [Pg.307]    [Pg.64]    [Pg.265]    [Pg.267]   
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See also in sourсe #XX -- [ Pg.211 , Pg.218 ]

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See also in sourсe #XX -- [ Pg.537 ]



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Diseases Fabry’s disease

Fabri’s disease

Fabri’s disease

Fabry

Fabry disease

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