Article
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
Molecular genetics and metabolism - 1 Feb 2005
Spiegel Ronen, Bach Gideon, Sury Vivi, Mengistu Getu, Meidan Bela, Shalev Stavit, Shneor Yona, Mandel Hanna, Zeigler Marsha
Abstract excerpt
A six-month-old infant girl presenting with progressive encephalopathy and abnormal myelination in the cerebral white matter was originally diagnosed as suffering from Krabbe disease. The diagnosis was based on a deficiency of galactocerebrosidase activity found in leukocytes isolated from whole blood. When cultured skin fibroblasts did not show a similar enzyme deficiency and sulphatide (stearoyl-1-14C) uptake...
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