metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.
MONDO:0018868
metachromatic leukodystrophy
is_a
ARSA deficiency
related
MLD
related
MLD, juvenile form
exact
arylsulfatase A deficiency
related
arylsulfatase A deficiency, juvenile form
exact
cerebral sclerosis diffuse metachromatic form
related
cerebroside sulfatase deficiency
related
leukodystrophy metachromatic
related
metachromatic leukodystrophy, juvenile form
exact
metachromatic leukoencephalopathy
related
sulfatide lipidosis
related