Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

Glyn Dawson; Reuben Matalon; Arthur O. Stein

doi:10.1016/S0022-3476(71)80151-8

Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

Glyn Dawson, Reuben Matalon, Arthur O. Stein

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

Abstract

Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

Original language	English (US)
Pages (from-to)	423-429
Number of pages	7
Journal	The Journal of Pediatrics
Volume	79
Issue number	3
DOIs	https://doi.org/10.1016/S0022-3476(71)80151-8
State	Published - Sep 1971
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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title = "Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts",

abstract = "Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.",

author = "Glyn Dawson and Reuben Matalon and Stein, {Arthur O.}",

note = "Funding Information: Supported by United States Public Health Service Mental Retardation Research Center Grant HD 04583 and United States Public Health Service Grant RR 00305 \[rom the General Clinical Research Facilities and Resources.",

year = "1971",

month = sep,

doi = "10.1016/S0022-3476(71)80151-8",

language = "English (US)",

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journal = "The Journal of Pediatrics",

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T2 - Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

AU - Dawson, Glyn

AU - Matalon, Reuben

AU - Stein, Arthur O.

N1 - Funding Information: Supported by United States Public Health Service Mental Retardation Research Center Grant HD 04583 and United States Public Health Service Grant RR 00305 \[rom the General Clinical Research Facilities and Resources.

PY - 1971/9

Y1 - 1971/9

N2 - Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

AB - Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

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IS - 3

ER -

Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

Abstract

ASJC Scopus subject areas

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