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Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD)
Tập 36 Số 3 - Trang 99-101 - 2015
Abstract Krabbe disease (KD) (globoid cell leukodystrophy) is a degenerative,
lysosomal storage disease, caused by a severe loss of galactocerebrosidase
(GALC) enzymatic activity. The inheritance is autosomal recessive. KD affects
the white matter of the central and peripheral nervous systems. We present a 3
year old boy in whom the disease had an ‘infantile’ or ‘classic’ presentation,
with spasti...