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Metachromatic Leukodystrophy - MLD also known as Arylsulfatase A deficiency

MLD is caused by a deficiency of the enzyme arylsulfatase A. It is one of several lipid storage diseases, which result in the toxic buildup of fatty materials (lipids) in cells in the nervous system, liver, and kidneys.

MLD is directly caused by a deficiency of the enzyme arylsulfatase A.[1] Without this enzyme, sulfatides build up in many tissues of the body, eventually destroying the myelin sheath of the nervous system.

There are three forms of MLD

• Late infantile.
• Juvenile.
• Adult.

In the late infantile form, which is the most common MLD, affected children have difficulty walking after the first year of life.

Symptoms include

• Muscle wasting and weakness.
• Muscle rigidity.
• Developmental delays.
• Progressive loss of vision leading to blindness.
• Convulsions.
• Impaired swallowing.
• Paralysis.
• Dementia.
• Children may become comatose.

Most children with this form of MLD die by age 5. Children with the juvenile form of MLD (between 3-10 years of age) usually begin with impaired school performance, mental deterioration, and dementia and then develop symptoms similar to the infantile form but with slower progression. The adult form commonly begins after age 16 as a psychiatric disorder or progressive dementia. Adult-onset MLD progresses more slowly than the infantile form.

Treatment                                                                                                                                                                            

• There is no cure for MLD.
• Bone marrow transplantation may delay progression of the disease in some cases.
• Other treatment is symptomatic and supportive.

Prognosis                                                                                                                                                                             

Most children with the infantile form die by age 5. The progression of symptoms in the juvenile and adult forms is slower and those affected may live a decade or more following diagnosis. [1]

1. Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V (March 2005). "Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum". FEBS J. 272 (5): 1179–88. doi:10.1111/j.1742-4658.2005.04553.x. PMID 15720392.
2. Ninds.nih

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