Autosomal recessive inheritance pattern as seen in<unk> <unk>  is caused by mutations in the GALC gene located on chromosome 14 (14q31), which is inherited in an autosomal recessive manner. Mutations in the GALC gene cause a deficiency of an enzyme called galactosylceramidase. In rare cases, it may be caused by a lack of active saposin A (a derivative of prosaposin). The buildup of unmetabolized lipids adversely affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) resulting in demyelination and severe progressive degeneration of motor skills. As part of a group of disorders known as leukodystrophies,<unk>  results from the imperfect growth and development of myelin. Galactosylceramidase deficiency also results in a buildup of a glycosphingolipid called psychosine, which is toxic to oligodendrocytes, a type of non-neuronal cell found in the nervous system, collectively termed neuroglia.
Krabbe disease
Foster Kennedy syndrome
Batten disease
Sandhoff disease
Stratton Parker syndrome
Warburg Micro syndrome
Fukuyama congenital muscular dystrophy
Dejerine–Sottas disease