Lysosomal cystine counter-transport in heterozygotes for cystinosis

Heterozygotes for cystinosis exhibited approximately half the normal rate of cystine counter-transport into isolated leukocyte lysosomes. This gene-dosage effect strongly supports previous findings demonstrating that the basic defect in cystinosis is impaired cystine transport across the lysosomal m...

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Bibliographic Details
Published in:American journal of human genetics 1984-03, Vol.36 (2), p.277-282
Main Authors: GAHL, W. A, BASHAN, N, TIETZE, F, SCHULMAN, J. D
Format: Article
Language:English
Subjects:
Aminoacid disorders
Biological and medical sciences
Biological Transport
Cells, Cultured
Child
cystine
Cystine - metabolism
Cystinosis - genetics
Cystinosis - metabolism
Errors of metabolism
Fanconi syndrome
Female
Genetic Carrier Screening - methods
Heterozygote
Humans
leukocyte
Leukocytes - metabolism
lysosomes
Lysosomes - metabolism
Male
man
Medical sciences
Metabolic diseases
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Summary:Heterozygotes for cystinosis exhibited approximately half the normal rate of cystine counter-transport into isolated leukocyte lysosomes. This gene-dosage effect strongly supports previous findings demonstrating that the basic defect in cystinosis is impaired cystine transport across the lysosomal membrane. The method was used to determine the cystinosis carrier status for siblings of affected children in two families with cystinosis.
ISSN:0002-9297
1537-6605