IllnessLeukodystrophy, metachromatic

NGS +

Metachromatic leukodystrophy (MLD) is characterized by decreased lysosomal degradation of sulfatides, which are toxic to the nervous system and gradually attack myelin-producing cells. The progressive destruction of white matter occurs throughout the CNS and causes progressive deterioration of intellectual functions and motor skills, peripheral neuropathy, incontinence, seizures, paralysis, inability to speak, blindness and hearing loss. MLD most commonly occurs as late-infantile form and affects 50-60% of those patients. Symptoms begin between age 4 and adolescence in 20-30% of grown-up patients; the adult form affects 15-20%. Most patients harbor mutations in the ARSA gene. In some cases, individuals with very low arylsulfatase A activity do not show MLD symptoms, but pseudoarylsulfatase deficiency without pathogenic consequences. MLD is inherited in an autosomal recessive manner. Single-gene tests tend to have low yield in adult-onset leukodystrophies. Therefore, normal results by no means exclude clinical diagnosis.

• Alias: Arylsulfatase A deficiency (ARSA) deficiency (ARSA)
• Alias: Cerebral sclerosis, diffuse, metachromatic form (ARSA)
• Alias: Cerebroside sulfatase deficiency (ARSA)
• Alias: Metachromatic Leukencephalopathy (ARSA)
• Alias: Sulfatide lipidosis (ARSA)