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PubMed1975

Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

In 4 years of 24 fetuses at risk for various sphingolipid and mucopolysaccharide storage diseases were examined. Amniocentesis at 16 weeks' gestation was followed in most cases by culture of amniotic fluid cells and measurement in the cells of the activity of the enzyme suspected to be deficient. Six fetuses were affected; five were examined morphologically and biochemically after abortion. Two fetuses had Tay-Sachs disease, two had GM1 gangliosidosis and one had Hurler's syndrome. Although in each affected detus the specific enzyme activity was absent, we found in the placenta 5 to 50% of the normal activity.

Clinical Enzyme Tests↗
PubMed1975

[Fucosidosis].

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Abnormalities, Multiple↗
PubMed1975

[Genetic study of GM2 gangliosidosis (Tay-Sachs and Sandhoff) by the study of the hexosaminidases of the Sandhoff-rodents hybrids (mouse and hamster)].

The electrophoretic pattern of human fibroblast extracts displays three bands (cathode to anode) of hexosaminidase: Hex B, Hex A, Hex C in normal strains, only one B band in Tay-Sachs strains, and only one C band in Sandhoff strains. The author's observations on rodent-Sandhoff cellular hybrids agree with the hypothesis made by others: Hex B = (beta beta)n; Hex A = (alpha beta)n; and Hex B = (alpha alpha) n. The mutation occurred in the alpha chain in Tay-Sachs disease and in the beta chain in Sandhoff disease. When mannose phosphate isomerase (MPI) is present, and therefore Hex C because of the well known MPI - Hex C synteny, a new hexosaminidase band called "Hex A fast" is seen in Sandhoff-hamster hybrids, while a "Hex A like" band is seen in Sandhoff-mouse hybrids. Both bands are absent from parental cells. It is suggested that "Hex A fast" and "Hex A like" are human-rodent hybrid hexosaminidases: "Hex A fast" = (alpha beta')n; "Hex A like" = (alpha beta's)n with the assumption that hamster HB' = (beta' beta')n and mouse Hex B'S = (beta's beta's)n. The specific anti Hex A = anti (alpha beta); the non-specific anti Hex A = anti Hex B = anti (beta); the anti (alpha) would be absent or weak. This explains the reactivity of the anti-Hex A against Hex A and Hex B, but not against Hex C.

Animals↗
PubMed1975

Mucolipidosis I.

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Child↗
PubMed1995

[Lysosomal storage disease].

Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences. In this paper clinical features, diagnostic methods, and trend of the present research for lysosomal storage diseases are reviewed.

Humans↗